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: rs57510142
rs57510142
1 1.000 0.080 12 52651601 missense variant T/A;G snv 0.800 1.000 15 1994 2005