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: rs13108218
rs13108218
7 4 3442204 intron variant A/G;T snv 0.700 1.000 3 2018 2019
dbSNP: rs3752442
rs3752442
2 4 3445156 intron variant A/G snv 0.22 0.700 1.000 1 2018 2018