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: rs2289328
rs2289328
IVD
1 15 40413218 intron variant G/A snv 0.12 0.700 1.000 3 2017 2019
dbSNP: rs11634187
rs11634187
IVD
1 15 40430582 intron variant T/G snv 0.12 0.700 1.000 1 2018 2018