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: rs11106430
rs11106430
1 12 92118652 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7135535
rs7135535
2 12 92125513 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016