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: rs34891900
rs34891900
2 22 17680392 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4819618
rs4819618
2 22 17651042 intron variant G/A;T snv 0.700 1.000 1 2019 2019