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: rs72549376
rs72549376
1 1.000 0.040 2 38071023 missense variant C/G;T snv 1.2E-05 0.700 1.000 20 1998 2008