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: rs1057519793
rs1057519793
3 0.882 0.040 5 177095551 missense variant T/A snv 0.710 1.000 3 2009 2019
dbSNP: rs1057519792
rs1057519792
1 1.000 0.040 5 177095415 missense variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs766121173
rs766121173
3 0.882 0.040 5 177095625 missense variant G/A snv 1.1E-04 6.3E-05 0.010 1.000 1 2019 2019