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: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs10824792
rs10824792
1 10 52766446 3 prime UTR variant C/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs11003123
rs11003123
6 0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs11003124
rs11003124
2 1.000 0.040 10 52772131 upstream gene variant T/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs1801157
rs1801157
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs36014597
rs36014597
2 1.000 0.080 10 52772040 upstream gene variant T/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2019 2019
dbSNP: rs7084554
rs7084554
1 10 52772053 upstream gene variant T/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs7270101
rs7270101
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.010 1.000 1 2011 2011