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: rs72556554
rs72556554
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.730 1.000 6 2007 2013
dbSNP: rs370504038
rs370504038
4 0.851 0.160 3 48467569 missense variant A/G snv 1.2E-04 1.2E-04 0.710 1.000 4 2007 2013
dbSNP: rs148833270
rs148833270
1 1.000 0.080 3 48467524 missense variant C/T snv 6.4E-05 2.1E-05 0.700 1.000 3 2007 2013
dbSNP: rs72556555
rs72556555
1 1.000 0.080 3 48467375 missense variant G/A;C snv 2.0E-05; 2.0E-04 0.700 1.000 3 2007 2013
dbSNP: rs762011967
rs762011967
1 1.000 0.080 3 48467128 missense variant C/T snv 4.4E-05 4.2E-05 0.700 1.000 3 2007 2013
dbSNP: rs112741962
rs112741962
1 1.000 0.080 3 48467394 missense variant G/C snv 1.2E-04 4.6E-04 0.700 0
dbSNP: rs113107733
rs113107733
1 1.000 0.080 3 48467334 missense variant G/A snv 1.3E-04 5.0E-04 0.700 0
dbSNP: rs760838030
rs760838030
5 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs780022923
rs780022923
1 1.000 0.080 3 48467572 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121908117
rs121908117
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015