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: rs80338942
rs80338942
10 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
dbSNP: rs1057517508
rs1057517508
2 0.925 0.120 13 20189068 frameshift variant A/- del 0.700 0
dbSNP: rs371086981
rs371086981
2 0.925 0.120 13 20189580 start lost A/C;G snv 4.0E-06 2.8E-05 0.700 1.000 2 2002 2011
dbSNP: rs1057517519
rs1057517519
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 1.000 5 2001 2014
dbSNP: rs104894397
rs104894397
3 0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04 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: rs397516873
rs397516873
2 0.925 0.120 13 20189514 frameshift variant ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/- del 2.0E-05 1.4E-05 0.700 1.000 2 2005 2011
dbSNP: rs1057517491
rs1057517491
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.700 0
dbSNP: rs80338939
rs80338939
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
dbSNP: rs104894406
rs104894406
2 0.925 0.200 13 20188977 missense variant C/A snv 0.800 1.000 7 1998 2009
dbSNP: rs104894408
rs104894408
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 1.000 5 2004 2015
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: 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: rs1801002
rs1801002
3 0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05 0.700 1.000 12 2000 2015
dbSNP: rs111033190
rs111033190
3 0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06 0.700 1.000 11 2001 2015
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: 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: rs104894398
rs104894398
10 0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06 0.700 0
dbSNP: rs72474224
rs72474224
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
dbSNP: rs104894407
rs104894407
3 0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05 0.800 1.000 7 1998 2009
dbSNP: rs104894413
rs104894413
9 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.800 1.000 7 1998 2009
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: 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: rs104894401
rs104894401
4 0.851 0.120 13 20189154 missense variant C/T snv 0.800 1.000 18 1998 2015
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