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: rs121964856
rs121964856
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.700 1.000 18 1994 2015
dbSNP: rs45578238
rs45578238
4 0.882 0.080 1 201361971 inframe deletion CTT/- delins 0.700 1.000 13 2000 2013
dbSNP: rs397516456
rs397516456
5 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 11 1994 2016
dbSNP: rs74315379
rs74315379
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.700 1.000 10 2001 2015
dbSNP: rs397516470
rs397516470
4 0.851 0.080 1 201363377 inframe deletion CTC/- delins 0.700 1.000 9 1995 2016
dbSNP: rs121964855
rs121964855
4 0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06 0.700 1.000 8 1994 2013
dbSNP: rs397516457
rs397516457
4 0.851 0.080 1 201365291 missense variant C/A;T snv 0.700 1.000 8 1991 2017
dbSNP: rs397516463
rs397516463
4 0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05 0.700 1.000 7 2003 2014
dbSNP: rs74315380
rs74315380
5 0.851 0.080 1 201364366 missense variant G/A;C snv 0.700 1.000 7 2004 2013
dbSNP: rs397516455
rs397516455
4 0.851 0.080 1 201365617 missense variant T/G snv 4.0E-06 7.0E-06 0.700 1.000 6 2003 2017
dbSNP: rs397516484
rs397516484
5 0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05 0.700 1.000 6 2003 2014
dbSNP: rs727504245
rs727504245
4 0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 5 1997 2017
dbSNP: rs397516471
rs397516471
4 0.882 0.080 1 201363348 missense variant C/T snv 0.700 1.000 4 2010 2013
dbSNP: rs727504246
rs727504246
5 0.827 0.080 1 201363330 missense variant G/A snv 0.700 1.000 4 2000 2017
dbSNP: rs727504247
rs727504247
5 0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06 0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
4 0.851 0.080 1 201359216 stop gained C/T snv 0.700 1.000 4 2003 2013
dbSNP: rs45586240
rs45586240
7 0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 2009 2017
dbSNP: rs727503512
rs727503512
5 0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 3 2012 2013
dbSNP: rs121964860
rs121964860
3 0.882 0.080 1 201361988 missense variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1558225569
rs1558225569
3 0.882 0.080 1 201363379 missense variant C/T snv 0.700 0
dbSNP: rs863225119
rs863225119
5 0.882 0.080 1 201359632 missense variant T/A snv 0.700 0