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: rs1193184183
rs1193184183
1 1.000 0.080 X 154546076 missense variant T/C snv 1.9E-05 0.010 1.000 1 2018 2018