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: rs63750998
rs63750998
2 0.925 0.160 2 47803506 missense variant C/A;G;T snv 9.5E-05; 7.2E-05; 1.1E-04 0.700 0
dbSNP: rs63751009
rs63751009
1 1.000 0.080 2 47799548 missense variant A/G snv 1.2E-05 0.700 0
dbSNP: rs63751098
rs63751098
1 1.000 0.080 2 47783394 missense variant G/C snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs63751113
rs63751113
2 1.000 0.080 2 47800910 missense variant G/A snv 0.700 0
dbSNP: rs63751121
rs63751121
1 1.000 0.080 2 47799840 missense variant A/C snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs63751258
rs63751258
1 1.000 0.080 2 47790963 missense variant G/T snv 0.700 0
dbSNP: rs63751450
rs63751450
1 1.000 0.080 2 47800391 missense variant A/G snv 8.4E-05 4.2E-05 0.700 0
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.030 0.667 3 2009 2018
dbSNP: rs536562413
rs536562413
15 0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs63750258
rs63750258
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs984907158
rs984907158
2 0.925 0.080 2 47799048 synonymous variant T/C snv 4.0E-06 2.8E-05 0.010 1.000 1 2007 2007