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: rs366684
rs366684
3 1 214013919 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs7541039
rs7541039
2 1 214003436 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016