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: rs1057519956
rs1057519956
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016