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: rs786205230
rs786205230
1 1.000 4 147486067 missense variant A/G;T snv 0.810 1.000 1 2015 2015
dbSNP: rs876657388
rs876657388
2 0.925 0.240 4 147539823 missense variant G/A snv 0.800 1.000 1 2015 2015