Skip to main content

Table S2 Genomic location of SNPs†

From: Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration

Gene

SNP

Exon/intron‡

Position (bp)

CYP27A1

rs11677711*

Intron 1

chr2: 219,669,375

 

rs7566656*

Intron 1

chr2: 219,664,519

 

rs7594289*

Intron 1

chr2: 219,652,286

 

rs933994*

Intron 1

chr2: 219,650,616

CYP27B1

rs8176345*

Exon 5

chr12: 58,158,558

 

rs4646536*

Intron 6

chr12: 58,157,988

VDR

rs4516035*

Promoter

chr12: 48,299,826

 

rs7299460*

Intron 1

chr12: 48,296,268

 

rs10783219*

Intron 1

chr12: 48,295,488

 

rs7136534*

Intron 1

chr12: 48,294,626

 

rs3890733*

Intron 2

chr12: 48,289,373

 

rs11574026*

Intron 2

chr12: 48,288,246

 

rs11574027*

Intron 2

chr12: 48,287,373

 

rs4237855*

Intron 2

chr12: 48,287,203

 

rs4328262*

Intron 2

chr12: 48,285,648

 

rs11168287*

Intron 2

chr12: 48,285,414

 

rs4760648*

Intron 2

chr12: 48,280,665

 

rs2853564*

Intron 2

chr12: 48,278,487

 

rs2238136*

Intron 2

chr12: 48,277,713

 

rs2254210*

Intron 3

chr12: 48,273,714

 

rs2228570§,*

Exon 4

chr12: 48,272,895

 

rs10875693*

Intron 4

chr12: 48,269,650

 

rs2239186*

Intron 4

chr12: 48,269,410

 

rs3782905*

Intron 4

chr12: 48,266,167

 

rs3819545*

Intron 4

chr12: 48,265,006

 

rs2189480*

Intron 4

chr12: 48,263,828

 

rs12721370*

Intron 4

chr12: 48,262,073

 

rs12717991*

Intron 4

chr12: 48,259,126

 

rs2239179*

Intron 5

chr12: 48,257,766

 

rs2283342*

Intron 5

chr12: 48,255,859

 

rs2107301*

Intron 5

chr12: 48,255,570

 

rs2239182*

Intron 5

chr12: 48,255,411

 

rs11574077*

Intron 5

chr12: 48,252,927

 

rs11168267*

Intron 5

chr12: 48,251,542

 

rs7975128*

Intron 8

chr12: 48,245,828

 

rs1544410*

Intron 10

chr12: 48,239,835

 

rs7975232*

Intron 10

chr12: 48,238,837

 

rs731236*

Exon 11

chr12: 48,238,757

 

rs3847987*

Exon 11

chr12: 48,238,068

CYP24A1

rs2248359*

Promoter

chr20: 52791518

 

rs6022999*

Intron 3

chr20: 52788013

 

rs2585428*

Intron 3

chr20: 52786897

 

rs2245153*

Intron 3

chr20: 52786406

 

rs2296241

Exon 4

chr20: 52786219

 

rs4809960*

Intron 4

chr20: 52786073

 

rs4809959*

Intron 4

chr20: 52785859

 

rs2181874*

Intron 4

chr20: 52784478

 

rs3787557*

Intron 4

chr20: 52783135

 

rs3787555*

Intron 4

chr20: 52782691

 

rs3787554*

Intron 4

chr20: 52782680

 

rs4809958*

Intron 4

chr20: 52782438

 

rs2762939*

Intron 5

chr20: 52781251

 

rs6068816*

Exon 6

chr20: 52781091

 

rs6022993

Intron 7

chr20: 52779247

 

rs6091828

Intron 7

chr20: 52779210

 

rs6127119

Intron 7

chr20: 52779082

 

c.990 + 189 G > A

Intron 7

chr20: 52779066

 

rs6127118*

Intron 7

chr20: 52779052

 

c.990 + 222_223ins99

Intron 7

chr20: 52779033

 

rs2209314*

Intron 7

chr20: 52778961

 

rs2296239

Exon 8

chr20: 52775528

 

rs2274130

Intron 9

chr20: 52774601

 

rs1570670

Intron 9

chr20: 52774579

 

rs1977297

Intron 9

chr20: 52774479

 

rs1570669*

Intron 9

chr20: 52774427

 

rs927650*

Intron 11

chr20: 52772741

 

rs2762934*

3'UTR

chr20: 52771261

 

rs4809957

3'UTR

chr20: 52771171

 

rs6022987

3'UTR

chr20: 52770596

 

rs11907350

3'UTR

chr 20: 52770439

 

rs10623012

3'UTR

chr20: 52770055-52770054

 

rs4811494

3'UTR

chr20: 52769984

 

rs2762933

3'UTR

chr20: 52769903

 

rs6097807*

3'UTR

chr20: 52769455

 

rs6068810*

3'UTR

chr20: 52769351

  1. Abbreviations: chr, chromosomes; UTR, untranslated region; SNP, single nucleotide polymorphism.
  2. †SNP chromosomal location according to Ensembl.
  3. ‡Exon/intron description based on largest transcript listed in Ensembl.
  4. §rs2228570 was formerly rs10735810.
  5. *SNPs investigated in the initial discovery cohort.