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Table S2 PCMs covered by both the Denisovan sequence and the Neanderthal sequence

From: Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

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   Human
CR060579 Chr1 111020443 - DP Low insulin
sensitivity,
association with
KCNA3 T > C:TCC   Ancient
CR057791 Chr1 111571946 + FP Increased promoter
activity, association
with
CHI3L2 G > T:GGT   Neanderthal
CR031479 Chr1 170894121 + DFP Systemic lupus
erythematosus (SLE),
association with
FASLG C > T:TTT   Human
CR025943 Chr1 228917021 - DP Increased
angiotensinogen
levels, association
with?
AGT G > A:AGG   Chimpanzee
CR102882 Chr10 64279946 - DFP SLE, association with EGR2 C > T:TCC   Chimpanzee
CR102883 Chr10 64280724 - DFP SLE, association with EGR2 T > C:CTT   Chimpanzee
CR072313 Chr10 94452862 + DP Diabetes, type 2,
association with?
HHEX C > T:TCC   Chimpanzee
CR942079 Chr10 104587142 - DP Polycystic ovaries,
association with
CYP17A1 A > G:GGG   Human
CR012509 Chr11 34416293 + DP Hypertension,
susceptibility to,
association with
CAT G > A:AGA   Neanderthal
and
chimpanzee
CR072303 Chr11 44212190 + DP Diabetes, type 2,
reduced risk,
association with?
EXT2 C > T:CTT   Ancient
CR035965 Chr11 45863406 + DFP Alzheimer's disease,
association with
MAPK8IP1 A > G:GGG   Human
CR094845 Chr11 74539529 + FP Increased mRNA
expression,
association with
SLCO2B1 G > A:AAA   Human
CR045957 Chr11 102101690 - DFP Preterm premature
rupture of
membranes,
association with?
MMP8 G > A:GGA   Neanderthal
CR025510 Chr11 102331749 - FP Increased
transcriptional
activity, association
with
MMP13 C > T:TCC   Chimpanzee
CR031478 Chr12 10203556 - DP Alzheimer disease,
reduced risk,
association with
OLR1 G > A:AAG   Denisova
and
chimpanzee
CR082031 Chr12 55796928 - DP Schistosomiasis
infection, association
with
STAT6 C > T:TTT   Human
CR087739 Chr13 42046024 + DFP Bone mineral density
in osteoporosis,
association with?
TNFSF11 C > T:CTC   Denisovan
CR080758 Chr13 45577313 - FP Increased promoter
activity, association
with
CPB2 T > C:CTT   Chimpanzee
CR994765 Chr13 112807756 + DFP Reduced plasma F7
levels, association
with
F7 G > T:CTT   Unsure
CR066661 Chr15 49336891 - DP Alzheimer's disease
in apolipoprotein E4
(APOE4) carriers,
increased risk,
association with
CYP19A1 G > A:AAA   Human
CR002154 Chr15 56511231 + DP Dyslipidaemia and
insulin resistance,
association with
LIPC G > A:AGG   Chimpanzee
CR993820 Chr15 72828970 + DFP Increased activity in
smokers, association
with
CYP1A2 C > A:AAA   Human
CR102187 Chr16 13921167 + DFP Bladder cancer,
increased risk,
association with
ERCC4 A > C:CAA   Chimpanzee
CR066332 Chr16 54244319 + DFP Attention-deficit
hyperactivity
disorder, association
with
SLC6A2 A > T:ATA   Denisovan
CR000229 Chr16 55552737 + DFP Higher HDL
cholesterol level,
association with
CETP C > A:AAA   Human
CR084012 Chr17 25549137 - FP Increased expression,
association with
SLC6A4 A > C:CCC   Human
CR035881 Chr17 29706729 + FP Increased monocyte
chemoattractant
protein-4 (MCP-4)
plasma levels,
association with
CCL13 C > T:CCT   Neanderthal
CR003707 Chr17 31231893 - DFP Atopic dermatitis,
association with
CCL5 C > T:TTT   Human
CR078280 Chr17 35323475 - DP Asthma, increased
risk, association
with?
GSDMB C > T:TTC   Denisova
and
chimpanzee
CR090198 Chr17 38531642 - FP Promoter activity,
association with
BRCA1 T > C:CCC   Human
CR052976 Chr17 43163827 + DP Asthma,
aspirin-induced,
association with
TBX21 T > C:CCC   Human
CR084013 Chr17 43178034 + DP Genital herpes
simplex virus-2
(HSV-2) infection,
association with?
TBX21 G > A:AAA   Human
CR051707 Chr19 7718733 - DFP Dengue disease,
protection against,
association with
CD209 A > G:GGG   Human
CR095376 Chr19 40464739 + DP Increased liver iron
concentration
HAMP A > G:GGA   Denisova
and
chimpanzee
CR050427 Chr19 46188969 + FP CYP2B6 expression,
association with
CYP2B6 T > C:CCC   Human
CR051274 Chr19 54149750 + DFP Disease progression,
chronic lymphocytic
leukaemia,
association with
BAX G > A:GAG   Denisovan
CR010588 Chr19 60077416 + DP Immunoglobulin A
nephropathy,
association with
FCAR T > C:CCC   Human
CR051277 Chr2 69468799 - DP Obesity, association
with
GFPT1 C > T:TTT   Human
CR025220 Chr2 234330398 + DFP Hyperbilirubinaemia,
association with
UGT1A1 T > G:GGG   Human
CR075263 Chr20 17370063 + DP Diabetes, type 2,
association with
PCSK2 T > C:CCC   Human
CR077665 Chr20 44066518 + FP Increased expression,
association with?
MMP9 C > T:TTT   Human
CR078166 Chr21 33619134 + FP Increased expression,
association with
IFNAR1 T > C:CCT   Denisova
and
chimpanzee
CR054260 Chr21 38590628 + FP Promoter activity,
association with
KCNJ15 T > G:GTT   Chimpanzee
CR096274 Chr21 42492734 + DFP Coronary artery
disease, severity,
association with
ABCG1 T > G:GGT   Denisova
and
chimpanzee
CR032439 Chr3 12328198 + DFP Increased height/lipid
metabolism,
association with
PPARG C > G:GGG   Human
CR066664 Chr3 129680794 - DP Coronary artery
disease, association
with
GATA2 G > A:AGG   Chimpanzee
CR014438 Chr3 185572960 - DP Myocardial infarction,
association with
THPO C > T:TTT   Human
CR004797 Chr4 26101320 - DP Higher percentage
body fat, association
with
CCKAR C > A:ACC   Chimpanzee
CR045948 Chr4 69995928 + FP Promoter activity,
association with
UGT2B7 G > A:AAA   Human
CR025435 Chr4 111053559 + DFP Malignant melanoma,
association with
EGF A > G:GGG   Human
CR057903 Chr4 155703465 + DFP Cerebral infarction,
association with
FGB C > T:TTT   Human
CR071281 Chr4 156348632 + DP Obesity, association
with
NPY2R C > T:TTT   Human
CR071289 Chr5 1499389 - DP Attention-deficit
hyperactivity
disorder, association
with
SLC6A3 A > G:GGG   Human
CR086597 Chr5 110434641 + FP Increased promoter
activity, association
with
TSLP C > T:TCC   Chimpanzee
CR035513 Chr5 131436741 + DP Reduced severity in
atopic dermatitis,
association with
CSF2 A > C:CCC   Human
CR015845 Chr5 132020708 + DP Asthma, association
with
IL13 C > T:TTC   Denisova
and
chimpanzee
CR082018 Chr6 78227843 - DFP Aggressive behaviour,
association with
HTR1B C > T:TCC   Chimpanzee
CR073540 Chr6 131935252 + DP Myocardial infarction,
association with
ARG1 G > T:TTT   Human
CR052970 Chr6 132254387 + DP Obesity, association
with
ENPP1 A > G:GGG   Human
CR075243 Chr6 132314950 - DFP Systemic sclerosis,
association with
CTGF C > G:CGG   Ancient
CR075274 Chr6 133077018 - DP HDL cholesterol
concentration,
association with
VNN1 A > C:CCC   Human
CR077383 Chr6 154401054 + FP Increased promoter
activity, association
with
OPRM1 A > G:GGG   Human
CR066667 Chr7 30969948 + DP Breast cancer,
decreased risk,
association with
GHRHR C > T:TTT   Human
CR092300 Chr7 111902894 + DFP Severity in cystic
fibrosis, association
with
IFRD1 C > T:TTT   Human
CR068449 Chr7 128381961 + DP SLE, association
with?
IRF5 C > T:TTT   Human
CR022507 Chr7 136351848 + DP Major depression in
women, association
with
CHRM2 T > A:AAA   Human
CR971950 Chr8 19840951 + FP Lower plasma
triglyceride level,
association with
LPL T > G:GGG   Human
CR023703 Chr8 120034205 - DP Decreased bone
mineral density,
association with?
TNFRSF11B C > T:TTT   Human
CR084001 Chr9 70877744 + DP Myocardial infarction,
association with
FXN C > T:TTT   Human
CR102176 Chr9 100952292 + DFP Breast cancer,
association with
TGFBR1 A > G:GGG   Human
CR020827 Chr9 106730271 - DP Increased risk of
coronary artery
disease, association
with
ABCA1 G > A:AAA   Human
CR045560 Chr9 106730659 - FP Reduced plasma
HDL cholesterol,
association with
ABCA1 C > G:GGG   Human
CR091269 Chr9 116608587 - DFP Crohn's disease,
susceptibility to,
association with
TNFSF15 A > G:GGG   Human
CR034594 Chr9 124172343 + FP Inhibition of
prostaglandin H2
formation,
association with?
PTGS1 A > G:GAG   Neanderthal
and
chimpanzee
CR054255 Chr9 127043845 - DP Bipolar disorder,
association with?
HSPA5 T > C:CCC   Human
CR077381 ChrX 113724838 + FP Reduced promoter
activity, association
with
HTR2C G > C:CGG   Chimpanzee
CR063398 ChrX 135554616 + FP Increased soluble
CD40 ligand
(CD40L) levels,
association with
CD40LG A > G:GGG   Human