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: rs200157211
rs200157211
1 1.000 7 98897744 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs80338826
rs80338826
6 0.827 0.320 22 36305985 missense variant G/A snv 0.010 1.000 1 2013 2013