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: rs2227283
rs2227283
3 0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6922753
rs6922753
1 1.000 0.040 6 101799798 splice region variant T/C snv 0.25 0.26 0.010 1.000 1 2019 2019