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: 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: rs121964856
rs121964856
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.730 1.000 18 1994 2020
dbSNP: rs397516457
rs397516457
4 0.851 0.080 1 201365291 missense variant C/A;T snv 0.710 1.000 12 1999 2017
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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.030 1.000 3 2011 2017
dbSNP: rs727504246
rs727504246
5 0.827 0.080 1 201363330 missense variant G/A snv 0.710 1.000 3 2000 2004
dbSNP: rs148395034
rs148395034
2 0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05 0.720 0.500 2 2012 2014
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: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
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: 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: rs140523053
rs140523053
1 1.000 0.040 1 26067352 missense variant G/A snv 1.4E-03 1.3E-03 0.010 1.000 1 2012 2012
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: rs142000963
rs142000963
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs200631005
rs200631005
2 0.925 0.040 1 236751561 missense variant A/C;G snv 2.4E-05; 1.1E-03 0.010 1.000 1 2010 2010
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