Source: ALL
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: rs1172063879
rs1172063879
ACACA
1 1.000 0.040 17 37259427 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2013 2017
dbSNP: rs371010069
rs371010069
ACE
1 1.000 0.040 17 63486654 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs6632677
rs6632677
ACE2
4 0.851 0.120 X 15596749 intron variant G/C snv 5.0E-03 0.010 1.000 1 2008 2008
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
9 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 8 2000 2014
dbSNP: rs730880404
rs730880404
ACTC1 ; LOC101928174
1 1.000 0.040 15 34791136 missense variant G/A snv 0.700 1.000 3 2012 2014
dbSNP: rs727504323
rs727504323
ACTC1 ; LOC101928174
1 1.000 0.040 15 34792105 missense variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs727504399
rs727504399
ACTC1 ; LOC101928174
1 1.000 0.040 15 34794733 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs200631005
rs200631005
ACTN2
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: rs727502886
rs727502886
ACTN2
3 0.925 0.040 1 236719007 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs755492182
rs755492182
ACTN2
3 0.882 0.080 1 236735677 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs786204951
rs786204951
ACTN2
2 0.925 0.040 1 236753990 missense variant A/G snv 0.010 1.000 1 2010 2010
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: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs1403543
rs1403543
AGTR2
2 1.000 0.040 X 116170939 intron variant G/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs200889953
rs200889953
ALPK3
1 1.000 0.040 15 84839087 stop gained C/T snv 0.700 1.000 3 2012 2016
dbSNP: rs745688425
rs745688425
ALPK3
1 1.000 0.040 15 84858461 frameshift variant C/- delins 1.1E-05 7.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs746536347
rs746536347
ATAD3B
3 0.882 0.040 1 1490639 missense variant C/T snv 2.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1199713333
rs1199713333
CACNA1C
2 0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs751224055
rs751224055
CACNA1C
2 0.925 0.040 12 2674574 missense variant C/A;T snv 5.2E-06; 5.2E-06 0.010 1.000 1 2018 2018
dbSNP: rs1057518933
rs1057518933
CASR
5 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0