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: rs730881116
rs730881116
4 0.851 0.080 1 201359216 stop gained C/T snv 0.700 1.000 4 2003 2013
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: rs367785431
rs367785431
1 1.000 0.080 1 201359221 missense variant G/A;T snv 2.5E-05 7.0E-06 0.700 1.000 14 1994 2012
dbSNP: rs397516484
rs397516484
5 0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05 0.800 1.000 19 1994 2014
dbSNP: rs121964857
rs121964857
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.800 1.000 13 1994 2012
dbSNP: rs111377893
rs111377893
2 0.925 0.080 1 201359622 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs863225119
rs863225119
5 0.882 0.080 1 201359632 missense variant T/A snv 0.800 1.000 1 2011 2011
dbSNP: rs45466197
rs45466197
1 1.000 0.080 1 201361327 missense variant C/A snv 2.2E-04 7.0E-05 0.700 0
dbSNP: rs863225120
rs863225120
1 1.000 0.080 1 201361970 missense variant A/G snv 0.700 0
dbSNP: rs45578238
rs45578238
4 0.882 0.080 1 201361971 inframe deletion CTT/- delins 0.700 1.000 13 2000 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: 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: rs727504246
rs727504246
5 0.827 0.080 1 201363330 missense variant G/A snv 0.800 1.000 4 2000 2017
dbSNP: rs397516471
rs397516471
4 0.882 0.080 1 201363348 missense variant C/T snv 0.700 1.000 4 2010 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 3 2012 2013
dbSNP: rs397516470
rs397516470
4 0.851 0.080 1 201363377 inframe deletion CTC/- delins 0.700 1.000 9 1995 2016
dbSNP: rs1558225569
rs1558225569
3 0.882 0.080 1 201363379 missense variant C/T snv 0.700 0
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: rs74315380
rs74315380
5 0.851 0.080 1 201364366 missense variant G/A;C snv 0.700 1.000 7 2004 2013
dbSNP: rs397516463
rs397516463
4 0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05 0.800 1.000 19 1994 2014
dbSNP: rs121964858
rs121964858
6 0.807 0.120 1 201365244 missense variant A/C;G;T snv 0.800 1.000 14 1994 2012
dbSNP: rs727504245
rs727504245
4 0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 6 1997 2017
dbSNP: rs397516457
rs397516457
4 0.851 0.080 1 201365291 missense variant C/A;T snv 0.800 1.000 20 1991 2017
dbSNP: rs727503513
rs727503513
2 0.925 0.080 1 201365292 missense variant G/A snv 0.700 0
dbSNP: rs121964856
rs121964856
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.800 1.000 29 1994 2015