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: rs12150053
rs12150053
1 1.000 0.120 17 1761175 upstream gene variant T/A;C snv 0.020 0.500 2 2007 2009
dbSNP: rs12219125
rs12219125
2 0.925 0.120 10 20304158 intergenic variant G/T snv 0.15 0.810 1.000 2 2011 2019
dbSNP: rs12948385
rs12948385
1 1.000 0.120 17 1761607 upstream gene variant G/A snv 0.26 0.020 0.500 2 2007 2009
dbSNP: rs13064954
rs13064954
1 1.000 0.120 3 157136953 downstream gene variant G/A snv 7.9E-02 0.810 1.000 2 2011 2016
dbSNP: rs39059
rs39059
1 1.000 0.120 7 29215854 intron variant A/G snv 0.32 0.020 1.000 2 2011 2015
dbSNP: rs4462262
rs4462262
2 0.925 0.120 10 57429418 intergenic variant T/C snv 0.55 0.810 1.000 2 2011 2019
dbSNP: rs1043045
rs1043045
1 1.000 0.120 3 57928451 3 prime UTR variant T/C snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs10491034
rs10491034
1 1.000 0.120 10 48602322 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057719
rs1057719
1 1.000 0.120 3 57927987 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1145612
rs1145612
1 1.000 0.120 5 158271107 upstream gene variant C/A snv 0.49 0.010 < 0.001 1 2019 2019
dbSNP: rs114790220
rs114790220
1 1.000 0.120 8 5306434 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11567245
rs11567245
1 1.000 0.120 7 82151406 intron variant T/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs11662496
rs11662496
1 1.000 0.120 18 43695432 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11771617
rs11771617
1 1.000 0.120 7 125733372 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1249719
rs1249719
2 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs12656571
rs12656571
1 1.000 0.120 5 109742339 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs13163610
rs13163610
1 1.000 0.120 5 94213172 intron variant A/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1373054855
rs1373054855
1 1.000 0.120 17 64370017 missense variant A/G snv 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs139876191
rs139876191
1 1.000 0.120 6 34242693 intron variant -/C delins 7.7E-02; 5.8E-06 5.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs140421861
rs140421861
ALB
1 1.000 0.120 4 73413512 synonymous variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs142293996
rs142293996
NVL
1 1.000 0.120 1 224260357 intron variant C/A snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs142610219
rs142610219
1 1.000 0.120 8 115906039 intergenic variant A/T snv 2.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs148995025
rs148995025
1 1.000 0.120 5 7085094 intron variant A/G snv 8.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs1535724
rs1535724
1 1.000 0.120 13 75609137 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1711347
rs1711347
1 1.000 0.120 1 243998680 intron variant G/A snv 0.53 0.700 1.000 1 2011 2011