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: rs1556019107
rs1556019107
3 1.000 X 134415106 stop gained C/T snv 0.700 1.000 6 1962 2016