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: rs1057520504
rs1057520504
4 0.882 0.080 12 120994238 missense variant G/A snv 0.010 < 0.001 1 2015 2015