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: rs2915594
rs2915594
1 8 30543850 intron variant T/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs2979489
rs2979489
6 8 30423317 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs35091702
rs35091702
2 8 30421955 intron variant GAAAAAA/- delins 0.78 0.700 1.000 1 2016 2016