Source: CLINVAR ×
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: rs386834236
rs386834236
GAA
6 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 18 1988 2015
dbSNP: rs121918166
rs121918166
4 0.925 0.160 15 27985101 missense variant C/T snv 3.0E-03 3.4E-03 0.700 1.000 12 1993 2016
dbSNP: rs530719719
rs530719719
3 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 1.000 15 2002 2017
dbSNP: rs28940579
rs28940579
4 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 1.000 12 1967 2017
dbSNP: rs121908119
rs121908119
5 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 6 2007 2017
dbSNP: rs372754256
rs372754256
3 1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 0.700 1.000 6 1966 2013
dbSNP: rs104894635
rs104894635
4 0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 0.700 1.000 8 2003 2018
dbSNP: rs1341894581
rs1341894581
3 0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 0.700 1.000 5 2013 2015
dbSNP: rs121434407
rs121434407
5 0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 0.700 1.000 7 1985 2017
dbSNP: rs730880324
rs730880324
3 0.882 7 2543754 frameshift variant -/T delins 2.5E-04; 2.0E-05 2.3E-04 0.700 1.000 9 2006 2017
dbSNP: rs147001633
rs147001633
7 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 36 1989 2018
dbSNP: rs138119149
rs138119149
9 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 1.000 4 2011 2014
dbSNP: rs5030869
rs5030869
4 0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 0.700 1.000 5 1981 2008
dbSNP: rs201108965
rs201108965
5 0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 0.700 1.000 3 2010 2015
dbSNP: rs121918243
rs121918243
5 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 0.700 1.000 7 2006 2015
dbSNP: rs387907022
rs387907022
3 0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04 0.700 1.000 7 2009 2015
dbSNP: rs148032587
rs148032587
2 0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04 0.700 1.000 12 1997 2017
dbSNP: rs368313959
rs368313959
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs766667249
rs766667249
3 1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 0.700 1.000 9 1998 2015
dbSNP: rs147484110
rs147484110
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 1.000 8 2002 2017
dbSNP: rs201893408
rs201893408
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 10 1999 2016
dbSNP: rs185142838
rs185142838
5 0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 0.700 1.000 7 1992 2016
dbSNP: rs761533681
rs761533681
2 0.925 2 65020916 missense variant C/T snv 1.2E-04 1.4E-05 0.700 1.000 6 1992 2016
dbSNP: rs754129466
rs754129466
2 1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 0.700 1.000 7 2004 2015
dbSNP: rs137853229
rs137853229
5 0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 0.700 1.000 5 2006 2015