Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1318772
rs1318772
MCC
2 1.000 0.080 5 113387870 intron variant A/G snv 0.18 0.800 1.000 1 2011 2011
dbSNP: rs1547247
rs1547247
HBS1L
5 6 135069698 intron variant G/A snv 0.22 0.700 1.000 1 2008 2008
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 4 2007 2015
dbSNP: rs4895441
rs4895441
LOC105378010
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.700 1.000 3 2008 2012
dbSNP: rs9376092
rs9376092
LOC105378010
10 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 0.700 1.000 1 2008 2008
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.800 1.000 2 2012 2014
dbSNP: rs1320963
rs1320963 		5 6 135122074 intergenic variant A/G snv 0.35 0.700 1.000 2 2007 2011
dbSNP: rs6600143
rs6600143
HBZ
1 16 151390 intron variant C/A snv 0.79 0.700 1.000 1 2008 2008
dbSNP: rs2033467
rs2033467 		1 5 151660065 downstream gene variant C/T snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs4500467
rs4500467 		1 11 15379598 intergenic variant A/G snv 0.78 0.700 1.000 1 2008 2008
dbSNP: rs2541639
rs2541639
HBM
4 16 155036 intron variant G/A snv 0.21 0.700 1.000 1 2008 2008
dbSNP: rs4758622
rs4758622
NAP1L4
1 11 2988691 intron variant A/C;G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs11136613
rs11136613
CSMD1
1 8 3368683 intron variant T/A snv 0.44 0.700 1.000 1 2008 2008
dbSNP: rs11030841
rs11030841
STIM1
1 11 4077783 intron variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs720106
rs720106
RRM1
1 11 4118748 intron variant T/C snv 3.9E-02 0.700 1.000 1 2008 2008
dbSNP: rs1823636
rs1823636 		1 11 4254774 intergenic variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs10835979
rs10835979 		1 11 4374955 upstream gene variant G/A snv 0.88 0.700 1.000 1 2008 2008
dbSNP: rs7128702
rs7128702
OR52I2
1 11 4586886 missense variant T/C snv 6.2E-02 0.12 0.700 1.000 1 2008 2008
dbSNP: rs7951206
rs7951206
OR52I2
1 11 4590424 3 prime UTR variant G/A snv 8.4E-02 0.700 1.000 1 2008 2008
dbSNP: rs7679
rs7679
PCIF1
9 0.925 0.160 20 45947863 3 prime UTR variant T/C snv 0.13 0.700 1.000 1 2008 2008
dbSNP: rs3861787
rs3861787 		1 11 4626540 regulatory region variant T/C;G snv 0.700 1.000 1 2008 2008
dbSNP: rs3844036
rs3844036 		1 11 4628219 intergenic variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1123991
rs1123991
OR51E2
1 11 4681935 synonymous variant C/A snv 0.82 0.76 0.700 1.000 1 2008 2008
dbSNP: rs12271916
rs12271916
MMP26
1 11 4705648 intron variant G/A snv 0.16 0.700 1.000 1 2008 2008
dbSNP: rs12788102
rs12788102
MMP26 ; OR51F1
2 1.000 0.040 11 4769345 synonymous variant A/G snv 9.5E-02 9.6E-02 0.700 1.000 1 2008 2008