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: rs28578546
rs28578546
1 2 231514788 upstream gene variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6750795
rs6750795
2 2 231513520 splice region variant T/C snv 0.60 0.53 0.700 1.000 1 2013 2013