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: rs28931614
rs28931614
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.900 0.981 53 1994 2020
dbSNP: rs75790268
rs75790268
2 0.925 0.120 4 1804377 missense variant G/T snv 0.850 1.000 10 1994 2012
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.800 1.000 6 1994 2002
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.750 1.000 5 1998 2020
dbSNP: rs121913116
rs121913116
9 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs121913114
rs121913114
2 0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs1211533350
rs1211533350
5 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.030 1.000 3 1998 2004
dbSNP: rs121913479
rs121913479
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs12822
rs12822
1 1.000 0.080 6 32977925 stop gained G/A;T snv 1.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs1397150560
rs1397150560
1 1.000 0.080 6 32978186 missense variant A/G snv 4.1E-06 0.010 1.000 1 2001 2001
dbSNP: rs144478519
rs144478519
2 0.925 0.120 2 113062547 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs267608572
rs267608572
1 1.000 0.080 X 154030690 missense variant C/T snv 3.5E-04 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1.000 1 2001 2001
dbSNP: rs587781858
rs587781858
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs751731391
rs751731391
1 1.000 0.080 10 121500901 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs756254503
rs756254503
2 0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs770873375
rs770873375
2 0.925 0.080 7 50612776 missense variant T/C snv 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs776165919
rs776165919
1 1.000 0.080 6 144437643 missense variant G/A snv 8.8E-05 0.010 1.000 1 2016 2016