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 0.730 1.000 18 1994 2020
dbSNP: rs397516456
rs397516456
5 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.710 1.000 22 1996 2016
dbSNP: rs397516457
rs397516457
4 0.851 0.080 1 201365291 missense variant C/A;T snv 0.710 1.000 12 1999 2017
dbSNP: rs727504246
rs727504246
5 0.827 0.080 1 201363330 missense variant G/A snv 0.710 1.000 3 2000 2004
dbSNP: rs121964857
rs121964857
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.710 1.000 1 2003 2003
dbSNP: rs397516463
rs397516463
4 0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05 0.700 1.000 12 1996 2017
dbSNP: rs74315379
rs74315379
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.700 1.000 12 2001 2013
dbSNP: rs111377893
rs111377893
2 0.925 0.080 1 201359622 splice donor variant C/A;G;T snv 0.700 1.000 9 1994 2011
dbSNP: rs121964855
rs121964855
4 0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06 0.700 1.000 8 1994 2008
dbSNP: rs397516470
rs397516470
4 0.851 0.080 1 201363377 inframe deletion CTC/- delins 0.700 1.000 8 1995 2012
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: rs397516459
rs397516459
1 1.000 0.040 1 201365281 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2004 2011
dbSNP: rs727504255
rs727504255
1 1.000 0.040 1 201365630 missense variant C/T snv 0.700 1.000 2 2008 2009
dbSNP: rs727504331
rs727504331
2 0.925 0.080 1 201365242 missense variant A/C snv 8.0E-06 0.700 1.000 2 2003 2008
dbSNP: rs376923877
rs376923877
1 1.000 0.040 1 201359637 missense variant G/A;T snv 8.9E-05 0.700 1.000 1 2013 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 1 2003 2003
dbSNP: rs727504277
rs727504277
1 1.000 0.040 1 201365284 inframe deletion TCC/- delins 0.700 0
dbSNP: rs730881122
rs730881122
1 1.000 0.040 1 201365295 missense variant T/G snv 0.700 0
dbSNP: rs121964858
rs121964858
6 0.807 0.120 1 201365244 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs1289010014
rs1289010014
1 1.000 0.040 1 201359623 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs141121678
rs141121678
1 1.000 0.040 1 201359220 missense variant C/A;T snv 4.1E-06; 6.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs200754249
rs200754249
4 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3729842
rs3729842
1 1.000 0.040 1 201368042 intron variant A/G snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs3729843
rs3729843
2 0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42 0.010 1.000 1 2012 2012