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: rs587783647
rs587783647
3 0.925 0.120 13 20188932 frameshift variant TCTA/- delins 4.8E-05 2.1E-05 0.700 1.000 3 2000 2014
dbSNP: rs111033294
rs111033294
10 0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04 0.700 0
dbSNP: rs104894406
rs104894406
2 0.925 0.200 13 20188977 missense variant C/A snv 0.800 1.000 7 1998 2009
dbSNP: rs786204597
rs786204597
2 0.925 0.120 13 20188984 stop gained C/A;T snv 1.6E-05 0.700 1.000 6 2009 2014
dbSNP: rs777236559
rs777236559
1 1.000 0.120 13 20188993 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 7 1998 2009
dbSNP: rs1057517521
rs1057517521
2 0.925 0.120 13 20189006 frameshift variant TG/- delins 0.700 1.000 1 2005 2005
dbSNP: rs770116143
rs770116143
2 0.925 0.120 13 20189017 frameshift variant CT/- delins 4.9E-05 0.700 1.000 1 2004 2004
dbSNP: rs80338950
rs80338950
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.800 1.000 7 1998 2009
dbSNP: rs28931595
rs28931595
2 0.925 0.200 13 20189047 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 7 1998 2009
dbSNP: rs1057517508
rs1057517508
2 0.925 0.120 13 20189068 frameshift variant A/- del 0.700 0
dbSNP: rs774518779
rs774518779
9 0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs80338949
rs80338949
1 1.000 0.120 13 20189095 missense variant T/C;G snv 1.4E-04 0.700 0
dbSNP: rs767178508
rs767178508
5 0.851 0.120 13 20189143 missense variant C/T snv 1.2E-05 4.2E-05 0.700 1.000 3 2004 2010
dbSNP: rs104894401
rs104894401
4 0.851 0.120 13 20189154 missense variant C/T snv 0.800 1.000 18 1998 2015
dbSNP: rs80338948
rs80338948
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
dbSNP: rs76434661
rs76434661
11 0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 0.700 1.000 10 2001 2014
dbSNP: rs779018464
rs779018464
2 0.925 0.120 13 20189193 missense variant C/G;T snv 4.0E-06 0.700 1.000 5 2003 2013
dbSNP: rs727503066
rs727503066
8 0.776 0.280 13 20189203 missense variant G/A;C snv 0.700 0
dbSNP: rs111033295
rs111033295
4 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 1.000 10 2002 2016
dbSNP: rs111033299
rs111033299
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
dbSNP: rs80338945
rs80338945
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs104894409
rs104894409
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.700 1.000 4 2007 2014
dbSNP: rs199883710
rs199883710
2 0.925 0.120 13 20189344 stop gained G/A snv 8.0E-06 6.3E-05 0.700 1.000 2 2006 2007
dbSNP: rs80338943
rs80338943
6 0.851 0.120 13 20189347 frameshift variant G/- delins 4.7E-04; 4.0E-06 2.1E-04 0.700 1.000 3 1999 2003
dbSNP: rs80338944
rs80338944
9 0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05 0.700 0