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: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2012 2012
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.010 1.000 1 2008 2008
dbSNP: rs4947296
rs4947296 		5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs487119
rs487119
SLC8A1
1 1.000 0.040 2 40261737 intron variant G/A snv 0.54 0.020 1.000 2 2017 2019
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2234688
rs2234688
IFNG ; IFNG-AS1
1 1.000 0.040 12 68158742 intron variant -/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG delins 0.010 1.000 1 2013 2013
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs3736309
rs3736309
AQP5 ; LOC101927318 ; LOC105369764
2 0.925 0.120 12 49964271 intron variant A/G snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs3840634
rs3840634
CAV1
2 0.925 0.120 7 116556798 intron variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs41279104
rs41279104
NOS1
6 0.827 0.160 12 117439680 intron variant C/T snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2013 2013