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: rs1211098985
rs1211098985
3 1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2020 2020