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: rs113358395
rs113358395
1 1.000 0.040 19 40714313 missense variant G/A;C snv 3.8E-03 3.5E-03 0.010 1.000 1 2017 2017