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: rs886041178
rs886041178
CHM
1 1.000 0.080 X 85958923 stop gained G/A;T snv 1.1E-05 0.700 1.000 1 2019 2019