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: rs2228468
rs2228468
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.700 1.000 3 2013 2018
dbSNP: rs2228467
rs2228467
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 2 2013 2016
dbSNP: rs2195224
rs2195224
2 3 42859508 intron variant G/A;C snv 0.700 1.000 1 2016 2016