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: rs9394948
rs9394948
1 6 43367017 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs6930689
rs6930689
1 6 43325892 intron variant T/C snv 0.42 0.700 1.000 1 2019 2019