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: rs13276212
rs13276212
1 8 65528358 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6991838
rs6991838
1 8 65558727 intron variant G/A snv 0.62 0.700 1.000 1 2019 2019