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: rs45578238
rs45578238
4 0.882 0.080 1 201361971 inframe deletion CTT/- delins 0.700 1.000 15 2000 2019
dbSNP: rs397517889
rs397517889
3 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 1.000 14 2000 2014
dbSNP: rs74315379
rs74315379
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.720 1.000 13 2001 2016
dbSNP: rs386134243
rs386134243
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 1.000 11 2012 2017
dbSNP: rs59301204
rs59301204
4 0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 0.710 1.000 9 2007 2018
dbSNP: rs74315380
rs74315380
5 0.851 0.080 1 201364366 missense variant G/A;C snv 0.720 1.000 8 2003 2016
dbSNP: rs267607554
rs267607554
3 1.000 0.080 1 156135925 stop gained C/T snv 0.700 1.000 6 2006 2014
dbSNP: rs59270054
rs59270054
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.720 1.000 6 2005 2010
dbSNP: rs60682848
rs60682848
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.710 1.000 6 2001 2020
dbSNP: rs61444459
rs61444459
5 0.851 0.160 1 156137667 missense variant G/A;C snv 0.700 1.000 6 2003 2014
dbSNP: rs28933091
rs28933091
4 0.882 0.160 1 156134474 missense variant C/A;G snv 0.710 1.000 5 1999 2007
dbSNP: rs61195471
rs61195471
6 0.827 0.160 1 156134496 missense variant G/A snv 0.700 1.000 5 2001 2013
dbSNP: rs727503512
rs727503512
5 0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 5 2012 2013
dbSNP: rs267607578
rs267607578
3 0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 0.700 1.000 4 2007 2012
dbSNP: rs267607581
rs267607581
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 1.000 4 1996 2017
dbSNP: rs28933092
rs28933092
2 1.000 0.040 1 156134497 missense variant A/G;T snv 0.700 1.000 4 1999 2008
dbSNP: rs28933093
rs28933093
5 0.882 0.160 1 156130741 missense variant G/A snv 0.700 1.000 4 2003 2009
dbSNP: rs397516464
rs397516464
1 1 201364365 missense variant C/G;T snv 0.700 1.000 4 2004 2014
dbSNP: rs397516471
rs397516471
4 0.882 0.080 1 201363348 missense variant C/T snv 0.700 1.000 4 2010 2017
dbSNP: rs56984562
rs56984562
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.700 1.000 4 2003 2010
dbSNP: rs57508089
rs57508089
3 1.000 0.080 1 156136110 synonymous variant C/T snv 0.700 1.000 4 2007 2017
dbSNP: rs56816490
rs56816490
4 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 3 2002 2009
dbSNP: rs58978449
rs58978449
1 1 156134943 inframe deletion AAG/- delins 0.700 1.000 3 2000 2001
dbSNP: rs111569862
rs111569862
1 1 156137653 splice acceptor variant G/A;C snv 0.700 1.000 2 2008 2016
dbSNP: rs267607593
rs267607593
1 1 156134964 missense variant T/C snv 0.700 1.000 2 2003 2008