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: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.710 1.000 2 2017 2019
dbSNP: rs769449
rs769449
11 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 0.710 1.000 1 2014 2014
dbSNP: rs267606663
rs267606663
3 0.925 0.080 19 44909021 missense variant G/A;C snv 7.3E-06 0.010 1.000 1 2011 2011