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: rs758352860
rs758352860
1 1.000 0.040 2 50531232 missense variant T/C snv 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs768913131
rs768913131
3 0.925 0.040 2 50552821 missense variant G/A snv 0.010 1.000 1 2004 2004