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: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.740 0.875 8 2013 2017
dbSNP: rs11571818
rs11571818
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs1555283031
rs1555283031
2 0.925 0.080 13 32337423 frameshift variant ACAT/- del 0.700 0
dbSNP: rs397507990
rs397507990
2 0.925 0.080 13 32370999 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs41293497
rs41293497
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs80359011
rs80359011
4 0.882 0.200 13 32362574 stop gained G/A;C snv 0.700 0
dbSNP: rs80359306
rs80359306
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359598
rs80359598
4 0.882 0.200 13 32340837 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs80359770
rs80359770
5 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.100 0.923 13 2000 2017
dbSNP: rs11571653
rs11571653
2 0.925 0.080 13 32336705 missense variant A/G snv 2.3E-04 1.7E-04 0.030 1.000 3 2003 2017
dbSNP: rs4987117
rs4987117
4 0.925 0.080 13 32340099 missense variant C/T snv 1.8E-02 1.8E-02 0.030 1.000 3 2005 2019
dbSNP: rs80359065
rs80359065
5 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.030 1.000 3 2003 2017
dbSNP: rs80358527
rs80358527
2 0.925 0.080 13 32316486 missense variant C/A;G;T snv 8.0E-06 0.020 0.500 2 2006 2009
dbSNP: rs80358829
rs80358829
6 0.827 0.120 13 32340327 missense variant C/T snv 0.020 1.000 2 2005 2015
dbSNP: rs80358978
rs80358978
2 0.925 0.080 13 32356514 missense variant G/A snv 1.6E-04 3.5E-05 0.020 1.000 2 2017 2017
dbSNP: rs876659602
rs876659602
3 0.882 0.080 13 32337468 missense variant A/G snv 0.020 1.000 2 2013 2016
dbSNP: rs1057520611
rs1057520611
2 0.925 0.080 13 32356462 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs11571707
rs11571707
7 0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs1334767632
rs1334767632
2 0.925 0.080 13 32332437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs15869
rs15869
3 0.925 0.080 13 32398875 3 prime UTR variant A/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1799944
rs1799944
5 0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs1799955
rs1799955
3 0.925 0.080 13 32355095 synonymous variant A/G;T snv 0.23; 8.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs1801426
rs1801426
3 0.882 0.120 13 32398747 missense variant A/G snv 2.3E-02 3.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs1801439
rs1801439
2 0.925 0.080 13 32332843 synonymous variant A/G snv 5.2E-02 3.8E-02 0.010 < 0.001 1 2009 2009