Source: UNIPROT ×
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: rs121913530
rs121913530
5 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.880 1.000 0 2011 2019
dbSNP: rs121913351
rs121913351
2 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 6 2002 2014
dbSNP: rs121909071
rs121909071
1 1.000 0.080 11 2918030 missense variant C/T snv 7.0E-06 0.800 1.000 5 2013 2014
dbSNP: rs121913469
rs121913469
1 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.710 1.000 1 2004 2015
dbSNP: rs121913366
rs121913366
1 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 1 2002 2002
dbSNP: rs1419255508
rs1419255508
1 1.000 0.080 X 3310056 missense variant T/G snv 9.6E-06 0.700 1.000 1 2012 2012
dbSNP: rs369042203
rs369042203
1 1.000 0.080 X 3311158 missense variant G/A;C snv 4.9E-05 0.700 1.000 1 2012 2012
dbSNP: rs754393038
rs754393038
1 1.000 0.080 X 3321214 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2012 2012
dbSNP: rs759222135
rs759222135
1 1.000 0.080 X 3324243 missense variant G/A;T snv 5.5E-06 0.700 1.000 1 2012 2012
dbSNP: rs776590689
rs776590689
1 1.000 0.080 X 3311304 missense variant C/A;T snv 5.5E-06 0.700 1.000 1 2012 2012
dbSNP: rs1324578301
rs1324578301
1 1.000 0.080 9 85020233 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs17851045
rs17851045
1 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs2071460
rs2071460
1 1.000 0.080 11 11352722 missense variant A/G snv 0.48 0.41 0.700 0
dbSNP: rs372594677
rs372594677
1 1.000 0.080 3 89472571 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0