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: rs863223746
rs863223746
3 0.925 0.080 15 67187472 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs886039303
rs886039303
5 0.882 0.160 10 88941310 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1412113319
rs1412113319
1 1.000 0.080 4 95148847 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs779721443
rs779721443
1 1.000 0.080 5 136174549 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs367837827
rs367837827
2 0.925 0.080 6 30922159 missense variant C/T snv 1.9E-04 7.7E-05 0.010 1.000 1 2019 2019