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: rs139239158
rs139239158
1 1.000 0.080 3 59918603 intron variant C/G snv 1.4E-02 0.700 1.000 1 2020 2020
dbSNP: rs760317
rs760317
2 0.925 0.080 3 60113429 intron variant A/G snv 0.60 0.010 1.000 1 2007 2007