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: rs75625374
rs75625374
1 1 207866086 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs78986840
rs78986840
1 1 207877778 intron variant T/C snv 3.8E-02 0.700 1.000 1 2019 2019