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: rs368865
rs368865
4 13 112825506 missense variant A/C;G;T snv 0.76; 4.0E-06 0.700 1.000 2 2017 2019
dbSNP: rs76533333
rs76533333
2 13 112698602 intron variant A/G snv 8.1E-02 0.700 1.000 2 2016 2017
dbSNP: rs12876143
rs12876143
3 13 112711977 intron variant T/C snv 7.7E-02 0.700 1.000 1 2019 2019