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: rs1057519912
rs1057519912
11 0.776 0.200 X 71129408 missense variant C/G;T snv 0.700 1.000 1 2016 2016