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: rs574034197
rs574034197
2 0.925 0.120 16 89746848 missense variant T/C;G snv 8.7E-05 0.800 1.000 17 1997 2015