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: rs10711289
rs10711289
1 3 169450583 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs9809961
rs9809961
2 3 169167240 intron variant T/C snv 0.25 0.700 1.000 1 2019 2019