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Table 1 Polymorphisms identified in human DAF. Map positions on human chromosome 1 were from NCBI build 35. Selected tag SNPs are in boldface. Alleles are coded Major > Minor. MAF calculated from the 32 individuals used for tag SNP selection, except for nsSNPs, in which case the MAF is calculated from genotyped controls. DIL = identified by in-house resequencing, HapMap = identified in HapMap II dataset, DIL&HapMap II = Identified in both in-house resequencing and HapMap II dataset.

From: Discovery, linkage disequilibrium and association analyses of polymorphisms of the immune complement inhibitor, decay-accelerating factor gene (DAF/CD55) in type 1 diabetes

Polymorphism – dbSNP(build125)

Location

MAF

AllelicR2

Dataset

 

Position(NCBI35)

Gene

   

ss49853051(G > C)

203881344

promoter

0.03

-

DIL

ss49853052(C > T)

203881734

promoter

0.03

-

DIL

rs6685886(C > A)

203882613

promoter

0.46

85.07

DIL

rs2564978(C > T)

203882811

promoter

0.33

tag SNP

DIL & HapMap

rs3841376 (TAGTTACTTCCCCTCCTTCCC > -)

203882879

promoter

0.33

100.00

DIL

ss49853053(A > G)

203883074

promoter

0.26

tag SNP

DIL

ss49853054(T > C)

203883723

intron 1

0.02

-

DIL

rs7533852(G > T)

203883822

intron 1

0.44

89.15

DIL

ss49853055(TA > -)

203884424

intron 2

0.03

-

DIL

rs4844590(C > T)

203884524

intron 2

0.23

tag SNP

DIL

rs2782828(G > T)

203885394

intron 2

0.24

94.47

HapMap

ss49853056(A > G)

203886206

intron 2

0.03

-

DIL

ss49853057(C > G)

203887670

intron 4

0.13

tag SNP

DIL

ss49853058(G > A)

203888427

intron 4

0.03

-

DIL

rs4844591(T > C)

203888688

intron 5

0.33

90.27

DIL & HapMap

rs4844592(A > T)

203889606

intron 5

0.33

90.27

HapMap

rs6703002(G > T)

203890767

intron 5

0.32

88.10

HapMap

rs6700168(C > A)

203890929

intron 5

0.38

82.68

HapMap

rs925130(A > G)

203891827

intron 5

0.33

100.00

HapMap

rs925131(G > A)

203892116

intron 5

0.33

90.27

HapMap

ss49853059(C > T)

203892582

intron 5

0.02

-

DIL

rs2184476(A > G)

203893064

intron 6

0.45

tag SNP

DIL

rs1507757(A > C)

203893143

intron 6

0.35

tag SNP

DIL

rs6662070(G > A)

203894104

intron 6

0.31

100.00

HapMap

rs1507758(C > G)

203895876

intron 6

0.33

90.27

HapMap

rs1507759(G > A)

203896023

intron 6

0.32

100.00

HapMap

rs12075906(A > G)

203896494

intron 6

0.33

100.00

HapMap

rs1354942(A > G)

203896887

intron 6

0.33

90.27

HapMap

rs7555030(G > A)

203897125

intron 6

0.33

100.00

HapMap

rs7544288(G > A)

203897417

intron 6

0.41

97.09

HapMap

rs1507760(T > C)

203897760

intron 6

0.33

100.00

HapMap

rs1507761(C > T)

203898194

intron 6

0.33

100.00

HapMap

ss49853060(C > T)

203898910

intron 7

0.04

-

DIL

rs10746462(G > A)

203898943

intron 7

0.33

90.27

DIL

rs10746463(A > G)

203898991

intron 7

0.33

90.27

DIL & HapMap

ss49853061(G > A)

203899255

intron 8

0.02

-

DIL

rs2135923(G > A)

203914988

intron 10

0.33

90.27

HapMap

ss49853066(- > TT)

203921271

intron 10

0.39

97.09

DIL

ss49853062(A > G)

203922987

3'

0.02

-

DIL

rs11120766(A > G)

203923074

3'

0.45

84.94

DIL

rs1507765(A > C)

203923641

3'

0.45

84.94

DIL & HapMap

rs11307618(A > -)

203923723

3'

0.41

97.09

DIL

ss49853063(A > G)

203923730

3'

0.41

97.09

DIL

ss49853064(C > -)

203923933

3'

0.39

91.71

DIL

rs12066318(T > C)

203924026

3'

0.33

tag SNP

DIL

ss49853065(- > ATG)

203924418

3'

0.45

84.94

DIL

rs11120769(G > T)

203925240

3'

0.45

83.28

DIL

rs11117564(C > A)

203925366

3'

0.45

90.45

DIL & HapMap

nsSNPs

     

rs28371588(>)

203884176

Exon 2

0.05

-

 

DAF-WESa/b(T > G)

203884266

Exon 2

0.0055

-

 

rs12135160(>)

203899090

Exon 8

-

-

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