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: rs112647987
rs112647987
1 5 40635818 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs79575541
rs79575541
1 5 40672320 intron variant C/G snv 8.6E-02 0.700 1.000 1 2019 2019