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: rs11669479
rs11669479
2 19 4485049 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs8887
rs8887
7 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 0.700 1.000 1 2016 2016