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: rs11881222
rs11881222
3 0.925 0.080 19 39244283 intron variant A/G snv 0.30 0.060 1.000 6 2011 2015
dbSNP: rs8103142
rs8103142
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.050 1.000 5 2011 2015
dbSNP: rs4803217
rs4803217
4 0.882 0.120 19 39243580 3 prime UTR variant C/A snv 0.39 0.040 1.000 4 2012 2017
dbSNP: rs142346548
rs142346548
2 0.925 0.160 19 39244145 missense variant G/A snv 4.0E-06 0.030 1.000 3 2017 2019
dbSNP: rs62120527
rs62120527
2 1.000 0.080 19 39243712 missense variant C/T snv 1.3E-02 1.2E-02 0.010 1.000 1 2018 2018