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: rs1057519971
rs1057519971
2 1.000 0.080 17 49619326 missense variant T/C;G snv 0.010 1.000 1 2015 2015