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: rs139975827
rs139975827
1 12 21915227 intron variant G/A snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs2307024
rs2307024
1 12 21852069 intron variant T/A;G snv 4.0E-06; 0.38 0.700 1.000 1 2019 2019