HGMD Acc | Chr | Location | Strand | Tag | Disease | Gene | Mutation | AA seq | Type |
---|---|---|---|---|---|---|---|---|---|
CM031993 | Chr1 | 9246497 | + | DFP | Cortisone reductase deficiency, partial | H6PD | G > A:AAA | Arg-Gln | Human |
CM040788 | Chr1 | 11828655 | - | DP | Stroke, increased risk, association with | NPPA | A > G:GGG | Term-Arg | Human |
CM100611 | Chr1 | 12005513 | + | DFP | Breast cancer, reduced risk, association with | MIIP | A > G:GGG | Lys-Glu | Human |
CM980072 | Chr1 | 21767322 | + | DFP | Hypophosphatasia, association with | ALPL | T > C:CCC | Tyr-His | Human |
CM056598 | Chr1 | 31865112 | + | DP | Polydipsia- hyponatraemia, association with | HCRTR1 | A > G:GAA | Ile-Val | Chimpanzee |
CM994122 | Chr1 | 35033356 | + | DFP | Atherosclerosis, association with | GJA4 | C > T:TTT | Pro-Ser | Human |
CM065514 | Chr1 | 55410663 | - | DP | Parkinson's disease, risk, association with | USP24 | G > A:AAA | Thr-Ile | Human |
CM073141 | Chr1 | 67457975 | + | DP | Psoriasis, increased risk, association with | IL23R | T > C:CCC | Leu-Pro | Human |
CM993347 | Chr1 | 67633930 | + | DM | Atopy | IL12RB2 | A > G:GAA | His-Arg | Chimpanzee |
CM067986 | Chr1 | 86873963 | + | DP | Chloride channel deficiency, association with | CLCA3P | C > G:GGG | Tyr-Term | Human |
CM042258 | Chr1 | 94337039 | - | DM | Stargardt disease | ABCA4 | T > G:GGT | Lys-Gln | Denisova and chimpanzee |
CM067656 | Chr1 | 156491643 | + | DP | Guillain-Barre ' syndrome, reduced risk, association with? | CD1A | C > G:GGC | Cys-Trp | Denisova and chimpanzee |
CM070090 | Chr1 | 167765599 | - | DM | Thrombosis? | F5 | C > T:CTC | Val-Met | Denisovan |
CM099896 | Chr1 | 173615346 | - | DP | Schizophrenia, association with | TNR | C > T:TTT | Arg-Lys | Human |
CM023569 | Chr1 | 199313698 | - | DP | Hypokalaemic periodic paralysis, association with? | CACNA1S | G > A:GRA | Gly-Gly | Unsure |
CM920010 | Chr1 | 228912417 | - | DP | Hypertension, association with | AGT | A > G:GGG | Met-Thr | Human |
CM065155 | Chr1 | 240108924 | + | DP | Colorectal cancer, increased risk, association with | EXO1 | G > A:AAA | Glu-Lys | Human |
CM033447 | Chr10 | 42926693 | + | DP | Hirschsprung disease, association with | RET | A > G:GGG | Ala-Ala | Human |
CM068190 | Chr10 | 54198272 | - | FP | Increased serum mannose-binding lectin (MBL) level, association with? | MBL2 | C > G:CGG | Leu-Leu | Ancient |
CM033482 | Chr10 | 64085190 | + | DP | Uric acid nephrolithiasis, association with | znf365d | G > A:GGA | Ala-Thr | Neanderthal |
CM067461 | Chr10 | 81691702 | - | DP | Lung cancer, susceptibility to, association with | SFTPD | T > C:CCC | Thr-Ala | Human |
CM035804 | Chr11 | 524242 | - | DP | Bladder cancer, association with? | HRAS | A > G:GAG | His-His | Neanderthal and chimpanzee |
CM025891 | Chr11 | 74585230 | + | FP | Decreased enzyme activity, association with | SLCO2B1 | C > T:TTT | Ser-Phe | Human |
CM080415 | Chr11 | 113308238 | + | FP | Altered receptor function, association with | HTR3B | A > C:CCC | Tyr-Ser | Human |
CM950862 | Chr12 | 5473868 | + | DP | Schizophrenia, severe, increased risk, association with | NTF3 | G > A:AGG | Gly-Glu | Chimpanzee |
CM093840 | Chr12 | 6023795 | - | DP | von Willebrand disease, quantitative type, association with | VWF | T > C:CCC | Thr-Ala | Human |
CM994637 | Chr12 | 6327323 | - | DFP | Hypertension, reduced risk, association with | SCNN1A | T > C:CCC | Thr-Ala | Human |
CM003671 | Chr12 | 14884706 | - | FP | Dombrock blood group variation | ART4 | T > C:TCC | Asn-Asp | Ancient |
CM077900 | Chr12 | 70659129 | + | FP | Increased mRNA expression, association with? | TPH2 | G > A:GAA | Pro-Pro | Ancient |
CM085048 | Chr12 | 78539038 | - | DP | Schizophrenia in females, association with | PAWR | A > C:CCC | Ile-Met | Human |
CM033453 | Chr12 | 107542027 | - | DFP | Coronary heart disease, decreased risk, in African Americans, association with | SELPLG | C > T:TTT | Met-Ile | Human |
CM022034 | Chr13 | 32526193 | + | DP | Age-related phenotypes, association with | KL | G > C:CGG | Cys-Ser | Chimpanzee |
CM033777 | Chr14 | 24170122 | - | DP | Apoptosis, unable to induce, association with | GZMB | A > G:GGG | Tyr-His | Human |
CM070246 | Chr14 | 60993992 | + | DFP | Cerebral infarction, association with | PRKCH | G > A:AAA | Val-Ile | Human |
CM067476 | Chr15 | 41511938 | - | DP | Lung cancer, susceptibility to, association with | TP53BP1 | T > G:GGG | Lys-Gln | Human |
CM067475 | Chr15 | 41555066 | - | DP | Lung cancer, susceptibility to, association with | TP53BP1 | G > C:CCC | Asp-Glu | Human |
CM085365 | Chr15 | 43185730 | - | DM | Hypothyroidism | DUOX2 | T > C:CCC | His-Arg | Human |
CM054862 | Chr15 | 46213776 | + | DP | Increased skin pigmentation, association with | SLC24A5 | A > G:GGG | Thr-Ala | Human |
CM057869 | Chr15 | 76704628 | - | FP | Altered function, association with | CHRNB4 | T > C:CTT | Met-Val | Chimpanzee |
CM031698 | Chr15 | 97295748 | + | DP | Increased longevity, association with? | IGF1R | G > A:AGG | Glu-Glu | Chimpanzee |
CM057585 | Chr16 | 1442858 | - | DP | Lower femoral neck bone mineral density in women, association with | CLCN7 | C > T:TCT | Val-Met | Neanderthal and chimpanzee |
CM983400 | Chr16 | 27263704 | + | DFP | Asthma, atopic, association with | IL4R | A > G:GGG | Ile-Val | Human |
CM067985 | Chr16 | 87788983 | + | DP | Cadherin deficiency, association with | CDH15 | C > A:AAA | Tyr-Term | Human |
CM057933 | Chr17 | 4585312 | - | DP | Atherosclerotic stenosis, increased, association with | CXCL16 | G > A:AAG | Ala-Val | Denisova and chimpanzee |
CM077855 | Chr17 | 7532893 | + | DP | Breast cancer, oestrogen receptor (ER) negative, association with? | WRAP53 | C > G:GGG | Arg-Gly | Human |
CM087381 | Chr17 | 7987497 | - | FP | Increased sex hormone-binding globulin levels, association with | PER1 | C > G:GGG | Ala-Pro | Human |
CM067489 | Chr17 | 16468520 | - | DP | Lung cancer, susceptibility to, association with | ZNF624 | C > A:AAA | Lys-Asn | Human |
CM030773 | Chr17 | 19753133 | - | DP | Cardiac disease, susceptibility to, association with | AKAP10 | T > C:CCC | Ile-Val | Human |
CM067336 | Chr17 | 19802050 | - | DP | Lung cancer, susceptibility to, association with | AKAP10 | C > T:TTT | Arg-His | Human |
CM096315 | Chr17 | 38498462 | - | DFP | Cervical cancer, decreased risk, association with | BRCA1 | G > A:AAA | Pro-Leu | Human |
CM093418 | Chr17 | 39581073 | + | DP | Hip bone mineral density, association with? | C17orf53 | A > C:CCC | Thr-Pro | Human |
CM032397 | Chr17 | 41432502 | + | DP | Progressive supranuclear palsy, association with | STH | A > G:GAA | Gln-Arg | Chimpanzee |
CM064363 | Chr17 | 45788957 | + | DP | Organ involvement in pseudoxantnoma elasticum (PXE), association with | XYLT2 | T > C:CCC | Tyr-Tyr | Human |
CM092499 | Chr17 | 76468818 | + | FP | Altered splicing, association with? | KIAA1303 | A > G:GAA | Gln-Gln | Chimpanzee |
CM080431 | Chr19 | 11091881 | + | FP | Increased plasma low-density lipoprotein cholesterol, association with | LDLR | T > C:CTT | Val-Val | Chimpanzee |
CM984025 | Chr19 | 18047618 | - | DM | Mycobacterial infection | IL12RB1 | T > C:CCT | Gln-Arg | Denisova and chimpanzee |
CM044918 | Chr19 | 41022117 | - | DM | Congenital nephrotic syndrome, Finnish type | NPHS1 | C > G:GGG | Val-Leu | Human |
CM073386 | Chr19 | 50087554 | + | DP | Alzheimer's disease, late-onset, association with? | TOMM40 | T > C:CCC | Phe-Phe | Human |
CM004814 | Chr19 | 50546759 | - | DFP | Basal cell carcinoma, reduced risk, association with | ERCC2 | T > G:GGG | Lys-Gln | Human |
CM096319 | Chr2 | 11276571 | - | DP | Chronic kidney disease in individuals with low triglycerides, association with | ROCK2 | G > T:TGT | Thr-Asn | Neanderthal and chimpanzee |
CM052876 | Chr2 | 49043425 | - | DP | Menstrual cycle length, association with | FSHR | C > T:TTT | Ser-Asn | Human |
CM073086 | Chr2 | 85634047 | - | DP | Higher body mass index, association with | GGCX | C > T:TCC | Arg-Gln | Chimpanzee |
CM087379 | Chr2 | 100957736 | + | FP | Higher testosterone levels, association with | NPAS2 | A > G:GGG | Thr-Ala | Human |
CM004559 | Chr2 | 227369287 | - | DP | Diabetes, type 2, association with | IRS1 | T > C:CCT | Ala-Ala | Denisova and chimpanzee |
CM085146 | Chr2 | 227839413 | + | DP | Chronic obstructive pulmonary disease, association with | COL4A3 | A > G:GAA | His-Arg | Chimpanzee |
CM014824 | Chr20 | 4653718 | + | DP | Creutzfeldt-Jakob disease, association with | PRND | C > T:TCT | Thr-Met | Neanderthal and chimpanzee |
CM064121 | Chr20 | 44075813 | + | DP | Leukaemia, risk, association with | MMP9 | G > C:CCC | Arg-Pro | Human |
CM035699 | Chr21 | 14403236 | - | FP | Plasma high-density lipoprotein (HDL) cholesterol, association with | LIPI | G > T:TTT | Asp-Glu | Human |
CM057711 | Chr21 | 33536125 | + | DP | Multiple sclerosis, susceptibility to, association with | IFNAR2 | T > G:GGG | Phe-Val | Human |
CM025479 | Chr21 | 44534334 | + | DP | Alopecia universalis, association with | AIRE | C > G:GGG | Ser-Arg | Human |
CM057927 | Chr22 | 21957369 | + | DP | Bipolar disorder, association with? | BCR | A > G:GGG | Asn-Ser | Human |
CM065332 | Chr22 | 24489289 | + | DP | Colorectal cancer, increased risk, association with | MYO18B | G > A:AAA | Gly-Glu | Human |
CM961339 | Chr22 | 30836050 | + | DM | Glucose/galactose malabsorption | -SLC5A1 | C > G:GGC | His-Gln | Denisova and chimpanzee |
CM096696 | Chr22 | 35792882 | - | DP | Iron status and erythrocyte volume, association with | TMPRSS6 | A > G:GGG | Val-Ala | Human |
CM092918 | Chr22 | 37827350 | + | FP | Increased antiretroviral activity, association with | APOBEC3H | G > C:CCC | Gly-Arg | Human |
CM910052 | Chr22 | 49410905 | - | DP | Phenotype modifier, association with? | ARSA | G > C:CCC | Thr-Ser | Human |
CM023348 | Chr3 | 336508 | + | DP | Schizophrenia, association with | CHL1 | C > T:TTT | Leu-Phe | Human |
CM096382 | Chr3 | 46476217 | - | DFP | Periodontitis, aggressive, association with | LTF | T > C:CCC | Lys-Arg | Human |
CM066581 | Chr3 | 126109714 | - | DP | Ulcerative colitis, association with | MUC13 | T > G:GGG | Arg-Ser | Human |
CM941277 | Chr3 | 172214994 | - | DP | Diabetes, type 2, association with | SLC2A2 | G > A:AAG | Thr-Ile | Denisova and chimpanzee |
CM065290 | Chr3 | 187925712 | + | DP | Nephropathy, reduced risk, association with | KNG1 | T > C:CCC | Met-Thr | Human |
CM025429 | Chr4 | 2960297 | + | FP | Increased enzymatic activity, association with | GRK4 | G > T:TTT | Arg-Leu | Human |
CM094340 | Chr4 | 38476105 | - | DFP | Leprosy, association with | TLR1 | T > C:CCC | Asn-Ser | Human |
CM890003 | Chr4 | 100458342 | - | FP | Alcohol dehydrogenase beta variant | ADH1B | T > C:CCC | His-Arg | Human |
CM092574 | Chr4 | 123756413 | - | DFP | Asthma, atopic, association with | IL21 | G > A:AAA | Cys-Cys | Human |
CM031390 | Chr4 | 141708518 | - | DP | Waist-to-hip ratio, association with | UCP1 | C > T:TTT | Ala-Thr | Human |
CM004732 | Chr5 | 1464412 | - | DP | Parkinson's disease, protection against, association with? | SLC6A3 | T > C:CTC | Ser-Ser | Neanderthal and chimpanzee |
CM094298 | Chr5 | 96165006 | - | DFP | Cervical carcinoma survival, association with | ERAP1 | C > G:GGG | Arg-Pro | Human |
CM0910115 | Chr5 | 131424377 | + | DP | Graves disease, association with | IL3 | C > T:TTT | Pro-Ser | Human |
CM043093 | Chr6 | 25958824 | - | DM | Glycogen storage disease 1c? | SLC17A3 | C > T:TCC | Gly-Arg | Chimpanzee |
CM074911 | Chr6 | 39433056 | - | DP | Coronary heart disease, association with | KIF6 | A > G:GGG | Trp-Arg | Human |
CM020385 | Chr6 | 74550153 | + | FP | Gov platelet antigen variation | CD109 | A > C:CCC | Tyr-Ser | Human |
CM993455 | Chr6 | 132214061 | + | DFP | Insulin resistance, association with | ENPP1 | A > C:CCC | Lys-Gln | Human |
CM060415 | Chr6 | 150156438 | + | FP | Reduced stability, association with | PCMT1 | A > G:AGG | Ile-Val | Ancient |
CM072043 | Chr6 | 160462998 | + | FP | Reduced metformin uptake, association with | SLC22A1 | C > T:TCC | Ser-Phe | Chimpanzee |
CM005460 | Chr7 | 17345635 | + | FP | Higher induced cytochrome P-450 (CYP) 1A1 activity, association with | AHR | G > A:AAA | Arg-Lys | Human |
CM055287 | Chr7 | 45899194 | + | DP | Renal function in diabetes, association with | IGFBP1 | A > G:GGA | Ile-Met | Denisova and chimpanzee |
CM072814 | Chr7 | 86894112 | - | DM | Intrahepatic cholestasis, familial progressive? | ABCB4 | T > C:CCC | Arg-Gly | Human |
CM064968 | Chr7 | 91468556 | + | DP | Colorectal cancer, increased risk, association with | AKAP9 | G > T:TTT | Met-Ile | Human |
CM930596 | Chr7 | 94775382 | - | DFP | Longevity, association with | PON1 | T > C:CCC | Gln-Arg | Human |
CM050323 | Chr7 | 107129530 | + | DM | Pendred syndrome? | SLC26A4 | T > G:GTG | Val-Gly | Neanderthal and chimpanzee |
CM060083 | Chr7 | 122422409 | - | DP | Alcohol dependence, risk, association with | TAS2R16 | A > C:CAA | Asn-Lys | Chimpanzee |
CM031370 | Chr7 | 141319073 | - | DP | Phenylthiocarbamide taste sensitivity, association with | TAS2R38 | T > C:CCC | Ile-Val | Human |
CM031368 | Chr7 | 141319814 | - | DP | Phenylthiocarbamide taste sensitivity, association with | TAS2R38 | C > G:GGG | Ala-Pro | Human |
CM081694 | Chr8 | 6466450 | + | DP | Cranial volume, association with | MCPH1 | C > T:TTT | Ala-Val | Human |
CM024569 | Chr8 | 18124476 | + | FP | Increased enzymatic activity, association with | NAT1 | T > G:GTG | Ser-Ala | Neanderthal and chimpanzee |
CM983990 | Chr8 | 22032655 | - | DM | Alopecia universalis? | HR | T > C:CCC | Thr-Ala | Human |
CM057431 | Chr8 | 27518398 | - | DP | Preeclampsia & essential hypertension, association with? | CLU | A > G:GGG | His-His | Human |
CM950017 | Chr8 | 37942955 | - | DFP | Hyperinsulinaemia, association with | ADRB3 | A > G:GGG | Trp-Arg | Human |
CM099178 | Chr8 | 118899878 | - | DM | Multiple osteochondromas | EXT1 | C > T:TCC | Val-Ile | Chimpanzee |
CM081761 | Chr8 | 143758933 | + | DFP | Gastric cancer, diffuse-type, association with | PSCA | C > T:TTT | Thr-Met | Human |
CM094855 | Chr9 | 14712477 | - | DP | Low bone mineral density, association with | CER1 | G > C:CGC | Ala-Gly | Neanderthal and chimpanzee |
CM940804 | Chr9 | 34639442 | + | DFP | Galactosaemia, Duarte variant | GALT | A > G:GAG | Asn-Asp | Neanderthal and chimpanzee |
CM071685 | Chr9 | 89511843 | + | DP | Inactivation of extracellular signal-regulated kinase (ERK)-induced apoptosis, association with | DAPK1 | A > G:AGG | Asn-Ser | Ancient |
CM990005 | Chr9 | 106626574 | - | FP | Higher plasma HDL cholesterol, association with | ABCA1 | T > C:CCC | Ile-Met | Human |
CM0910114 | ChrX | 77414973 | - | DP | Asthma, association with | CYSLTR1 | G > A:AAA | Phe-Phe | Human |
CM085353 | ChrX | 149390017 | + | DM | Hypospadias | MAMLD1 | T > C:CYC | Val-Ala | Unsure |
CR043164 | Chr1 | 43575707 | + | DP | Platelet count, association with? | MPL | C > A:AAA | Â | Human |
CR060579 | Chr1 | 111020443 | - | DP | Low insulin sensitivity, association with | KCNA3 | T > C:TCC | Â | Ancient |
CR057791 | Chr1 | 111571946 | + | FP | Increased promoter activity, association with | CHI3L2 | G > T:GGT | Â | Neanderthal |
CR031479 | Chr1 | 170894121 | + | DFP | Systemic lupus erythematosus (SLE), association with | FASLG | C > T:TTT | Â | Human |
CR025943 | Chr1 | 228917021 | - | DP | Increased angiotensinogen levels, association with? | AGT | G > A:AGG | Â | Chimpanzee |
CR102882 | Chr10 | 64279946 | - | DFP | SLE, association with | EGR2 | C > T:TCC | Â | Chimpanzee |
CR102883 | Chr10 | 64280724 | - | DFP | SLE, association with | EGR2 | T > C:CTT | Â | Chimpanzee |
CR072313 | Chr10 | 94452862 | + | DP | Diabetes, type 2, association with? | HHEX | C > T:TCC | Â | Chimpanzee |
CR942079 | Chr10 | 104587142 | - | DP | Polycystic ovaries, association with | CYP17A1 | A > G:GGG | Â | Human |
CR012509 | Chr11 | 34416293 | + | DP | Hypertension, susceptibility to, association with | CAT | G > A:AGA | Â | Neanderthal and chimpanzee |
CR072303 | Chr11 | 44212190 | + | DP | Diabetes, type 2, reduced risk, association with? | EXT2 | C > T:CTT | Â | Ancient |
CR035965 | Chr11 | 45863406 | + | DFP | Alzheimer's disease, association with | MAPK8IP1 | A > G:GGG | Â | Human |
CR094845 | Chr11 | 74539529 | + | FP | Increased mRNA expression, association with | SLCO2B1 | G > A:AAA | Â | Human |
CR045957 | Chr11 | 102101690 | - | DFP | Preterm premature rupture of membranes, association with? | MMP8 | G > A:GGA | Â | Neanderthal |
CR025510 | Chr11 | 102331749 | - | FP | Increased transcriptional activity, association with | MMP13 | C > T:TCC | Â | Chimpanzee |
CR031478 | Chr12 | 10203556 | - | DP | Alzheimer disease, reduced risk, association with | OLR1 | G > A:AAG | Â | Denisova and chimpanzee |
CR082031 | Chr12 | 55796928 | - | DP | Schistosomiasis infection, association with | STAT6 | C > T:TTT | Â | Human |
CR087739 | Chr13 | 42046024 | + | DFP | Bone mineral density in osteoporosis, association with? | TNFSF11 | C > T:CTC | Â | Denisovan |
CR080758 | Chr13 | 45577313 | - | FP | Increased promoter activity, association with | CPB2 | T > C:CTT | Â | Chimpanzee |
CR994765 | Chr13 | 112807756 | + | DFP | Reduced plasma F7 levels, association with | F7 | G > T:CTT | Â | Unsure |
CR066661 | Chr15 | 49336891 | - | DP | Alzheimer's disease in apolipoprotein E4 (APOE4) carriers, increased risk, association with | CYP19A1 | G > A:AAA | Â | Human |
CR002154 | Chr15 | 56511231 | + | DP | Dyslipidaemia and insulin resistance, association with | LIPC | G > A:AGG | Â | Chimpanzee |
CR993820 | Chr15 | 72828970 | + | DFP | Increased activity in smokers, association with | CYP1A2 | C > A:AAA | Â | Human |
CR102187 | Chr16 | 13921167 | + | DFP | Bladder cancer, increased risk, association with | ERCC4 | A > C:CAA | Â | Chimpanzee |
CR066332 | Chr16 | 54244319 | + | DFP | Attention-deficit hyperactivity disorder, association with | SLC6A2 | A > T:ATA | Â | Denisovan |
CR000229 | Chr16 | 55552737 | + | DFP | Higher HDL cholesterol level, association with | CETP | C > A:AAA | Â | Human |
CR084012 | Chr17 | 25549137 | - | FP | Increased expression, association with | SLC6A4 | A > C:CCC | Â | Human |
CR035881 | Chr17 | 29706729 | + | FP | Increased monocyte chemoattractant protein-4 (MCP-4) plasma levels, association with | CCL13 | C > T:CCT | Â | Neanderthal |
CR003707 | Chr17 | 31231893 | - | DFP | Atopic dermatitis, association with | CCL5 | C > T:TTT | Â | Human |
CR078280 | Chr17 | 35323475 | - | DP | Asthma, increased risk, association with? | GSDMB | C > T:TTC | Â | Denisova and chimpanzee |
CR090198 | Chr17 | 38531642 | - | FP | Promoter activity, association with | BRCA1 | T > C:CCC | Â | Human |
CR052976 | Chr17 | 43163827 | + | DP | Asthma, aspirin-induced, association with | TBX21 | T > C:CCC | Â | Human |
CR084013 | Chr17 | 43178034 | + | DP | Genital herpes simplex virus-2 (HSV-2) infection, association with? | TBX21 | G > A:AAA | Â | Human |
CR051707 | Chr19 | 7718733 | - | DFP | Dengue disease, protection against, association with | CD209 | A > G:GGG | Â | Human |
CR095376 | Chr19 | 40464739 | + | DP | Increased liver iron concentration | HAMP | A > G:GGA | Â | Denisova and chimpanzee |
CR050427 | Chr19 | 46188969 | + | FP | CYP2B6 expression, association with | CYP2B6 | T > C:CCC | Â | Human |
CR051274 | Chr19 | 54149750 | + | DFP | Disease progression, chronic lymphocytic leukaemia, association with | BAX | G > A:GAG | Â | Denisovan |
CR010588 | Chr19 | 60077416 | + | DP | Immunoglobulin A nephropathy, association with | FCAR | T > C:CCC | Â | Human |
CR051277 | Chr2 | 69468799 | - | DP | Obesity, association with | GFPT1 | C > T:TTT | Â | Human |
CR025220 | Chr2 | 234330398 | + | DFP | Hyperbilirubinaemia, association with | UGT1A1 | T > G:GGG | Â | Human |
CR075263 | Chr20 | 17370063 | + | DP | Diabetes, type 2, association with | PCSK2 | T > C:CCC | Â | Human |
CR077665 | Chr20 | 44066518 | + | FP | Increased expression, association with? | MMP9 | C > T:TTT | Â | Human |
CR078166 | Chr21 | 33619134 | + | FP | Increased expression, association with | IFNAR1 | T > C:CCT | Â | Denisova and chimpanzee |
CR054260 | Chr21 | 38590628 | + | FP | Promoter activity, association with | KCNJ15 | T > G:GTT | Â | Chimpanzee |
CR096274 | Chr21 | 42492734 | + | DFP | Coronary artery disease, severity, association with | ABCG1 | T > G:GGT | Â | Denisova and chimpanzee |
CR032439 | Chr3 | 12328198 | + | DFP | Increased height/lipid metabolism, association with | PPARG | C > G:GGG | Â | Human |
CR066664 | Chr3 | 129680794 | - | DP | Coronary artery disease, association with | GATA2 | G > A:AGG | Â | Chimpanzee |
CR014438 | Chr3 | 185572960 | - | DP | Myocardial infarction, association with | THPO | C > T:TTT | Â | Human |
CR004797 | Chr4 | 26101320 | - | DP | Higher percentage body fat, association with | CCKAR | C > A:ACC | Â | Chimpanzee |
CR045948 | Chr4 | 69995928 | + | FP | Promoter activity, association with | UGT2B7 | G > A:AAA | Â | Human |
CR025435 | Chr4 | 111053559 | + | DFP | Malignant melanoma, association with | EGF | A > G:GGG | Â | Human |
CR057903 | Chr4 | 155703465 | + | DFP | Cerebral infarction, association with | FGB | C > T:TTT | Â | Human |
CR071281 | Chr4 | 156348632 | + | DP | Obesity, association with | NPY2R | C > T:TTT | Â | Human |
CR071289 | Chr5 | 1499389 | - | DP | Attention-deficit hyperactivity disorder, association with | SLC6A3 | A > G:GGG | Â | Human |
CR086597 | Chr5 | 110434641 | + | FP | Increased promoter activity, association with | TSLP | C > T:TCC | Â | Chimpanzee |
CR035513 | Chr5 | 131436741 | + | DP | Reduced severity in atopic dermatitis, association with | CSF2 | A > C:CCC | Â | Human |
CR015845 | Chr5 | 132020708 | + | DP | Asthma, association with | IL13 | C > T:TTC | Â | Denisova and chimpanzee |
CR082018 | Chr6 | 78227843 | - | DFP | Aggressive behaviour, association with | HTR1B | C > T:TCC | Â | Chimpanzee |
CR073540 | Chr6 | 131935252 | + | DP | Myocardial infarction, association with | ARG1 | G > T:TTT | Â | Human |
CR052970 | Chr6 | 132254387 | + | DP | Obesity, association with | ENPP1 | A > G:GGG | Â | Human |
CR075243 | Chr6 | 132314950 | - | DFP | Systemic sclerosis, association with | CTGF | C > G:CGG | Â | Ancient |
CR075274 | Chr6 | 133077018 | - | DP | HDL cholesterol concentration, association with | VNN1 | A > C:CCC | Â | Human |
CR077383 | Chr6 | 154401054 | + | FP | Increased promoter activity, association with | OPRM1 | A > G:GGG | Â | Human |
CR066667 | Chr7 | 30969948 | + | DP | Breast cancer, decreased risk, association with | GHRHR | C > T:TTT | Â | Human |
CR092300 | Chr7 | 111902894 | + | DFP | Severity in cystic fibrosis, association with | IFRD1 | C > T:TTT | Â | Human |
CR068449 | Chr7 | 128381961 | + | DP | SLE, association with? | IRF5 | C > T:TTT | Â | Human |
CR022507 | Chr7 | 136351848 | + | DP | Major depression in women, association with | CHRM2 | T > A:AAA | Â | Human |
CR971950 | Chr8 | 19840951 | + | FP | Lower plasma triglyceride level, association with | LPL | T > G:GGG | Â | Human |
CR023703 | Chr8 | 120034205 | - | DP | Decreased bone mineral density, association with? | TNFRSF11B | C > T:TTT | Â | Human |
CR084001 | Chr9 | 70877744 | + | DP | Myocardial infarction, association with | FXN | C > T:TTT | Â | Human |
CR102176 | Chr9 | 100952292 | + | DFP | Breast cancer, association with | TGFBR1 | A > G:GGG | Â | Human |
CR020827 | Chr9 | 106730271 | - | DP | Increased risk of coronary artery disease, association with | ABCA1 | G > A:AAA | Â | Human |
CR045560 | Chr9 | 106730659 | - | FP | Reduced plasma HDL cholesterol, association with | ABCA1 | C > G:GGG | Â | Human |
CR091269 | Chr9 | 116608587 | - | DFP | Crohn's disease, susceptibility to, association with | TNFSF15 | A > G:GGG | Â | Human |
CR034594 | Chr9 | 124172343 | + | FP | Inhibition of prostaglandin H2 formation, association with? | PTGS1 | A > G:GAG | Â | Neanderthal and chimpanzee |
CR054255 | Chr9 | 127043845 | - | DP | Bipolar disorder, association with? | HSPA5 | T > C:CCC | Â | Human |
CR077381 | ChrX | 113724838 | + | FP | Reduced promoter activity, association with | HTR2C | G > C:CGG | Â | Chimpanzee |
CR063398 | ChrX | 135554616 | + | FP | Increased soluble CD40 ligand (CD40L) levels, association with | CD40LG | A > G:GGG | Â | Human |