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: rs267608140
rs267608140
2 0.925 0.160 2 47806838 missense variant T/A;C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750157
rs63750157
1 1.000 0.080 2 47804943 missense variant T/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750358
rs63750358
1 1.000 0.080 2 47800037 missense variant G/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750637
rs63750637
1 1.000 0.080 2 47800343 missense variant C/G;T snv 0.700 1.000 12 1999 2012
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: rs63750804
rs63750804
1 1.000 0.080 2 47801075 missense variant A/T snv 0.700 0
dbSNP: rs63750895
rs63750895
1 1.000 0.080 2 47800382 missense variant T/C snv 0.700 0
dbSNP: rs63750949
rs63750949
6 0.827 0.080 2 47806213 missense variant C/A;T snv 0.700 0
dbSNP: rs63751113
rs63751113
2 1.000 0.080 2 47800910 missense variant G/A snv 0.700 0
dbSNP: rs63751258
rs63751258
1 1.000 0.080 2 47790963 missense variant G/T snv 0.700 0
dbSNP: rs63750617
rs63750617
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 12 1999 2012
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
dbSNP: rs63750882
rs63750882
1 1.000 0.080 2 47806299 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs63750664
rs63750664
3 0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750878
rs63750878
1 1.000 0.080 2 47798837 missense variant G/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs63750389
rs63750389
2 0.925 0.160 2 47800532 missense variant A/G snv 8.0E-06 0.700 1.000 12 1999 2012
dbSNP: rs63750287
rs63750287
1 1.000 0.080 2 47801045 missense variant C/A;G snv 8.4E-06 0.700 1.000 12 1999 2012
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: rs63751009
rs63751009
1 1.000 0.080 2 47799548 missense variant A/G snv 1.2E-05 0.700 0
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: rs63750741
rs63750741
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750725
rs63750725
1 1.000 0.080 2 47800298 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750304
rs63750304
1 1.000 0.080 2 47800158 missense variant C/G snv 1.6E-05 7.0E-06 0.700 1.000 12 1999 2012
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: rs63749889
rs63749889
2 0.925 0.120 2 47800685 missense variant G/A snv 2.4E-05 7.0E-06 0.700 0