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: rs13401937
rs13401937
1 1.000 0.080 2 55025078 splice region variant T/G snv 0.11 0.14 0.700 1.000 1 2019 2019