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: rs74315379
rs74315379
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.720 1.000 13 2001 2016