Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs546099787
rs546099787
MMACHC ; CCDC163
1.000 0.160 1 45500412 missense variant A/G snv 1.2E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.800 1.000 11 2006 2017
dbSNP: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 1.000 6 2010 2015
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.060 1.000 6 2007 2019
dbSNP: rs758477536
rs758477536
MMACHC ; CCDC163
1.000 0.160 1 45500333 start lost A/G;T snv 8.0E-06
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.700 1.000 5 2006 2017
dbSNP: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 1.000 4 2010 2017
dbSNP: rs35594137
rs35594137
GJA5 ; LOC102723321
1.000 0.080 1 147773393 upstream gene variant C/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 1.000 3 2011 2019
dbSNP: rs4657616
rs4657616
IFI16 ; PYDC5
1 159001296 intron variant A/G snv 0.31
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.800 1.000 3 2011 2019
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 1.000 3 2010 2015
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 1.000 3 2007 2011
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.030 1.000 3 2012 2014
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 1.000 3 2009 2017
dbSNP: rs1044845711
rs1044845711
ADAR ; CHRNB2
1.000 0.080 1 154585024 missense variant G/A snv 7.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.720 1.000 2 2005 2013
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
0.882 0.080 1 147760632 intron variant T/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.710 1.000 2 2011 2018
dbSNP: rs11810571
rs11810571
TDRKH ; TDRKH-AS1
1.000 0.040 1 151789832 intron variant C/A;G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 2 2017 2018
dbSNP: rs1409716731
rs1409716731
HMGCL ; LOC105376861
1.000 0.080 1 23825389 frameshift variant C/- del 2.1E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 2 2003 2017
dbSNP: rs198358
rs198358
CLCN6 ; NPPA-AS1
0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2009 2011
dbSNP: rs3795503
rs3795503
KIAA1614 ; LOC107985231
1 180936558 synonymous variant C/T snv 0.31 0.27
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs45574833
rs45574833
C4BPA ; LOC107985251
1.000 0.120 1 207126725 missense variant G/A;C snv 1.4E-02 1.4E-02
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.020 0.500 2 2008 2009
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2012 2014
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 1.000 2 2012 2014
dbSNP: rs779893448
rs779893448
MMACHC ; CCDC163
1.000 0.160 1 45500335 start lost G/A snv 8.0E-06 7.0E-06
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.700 1.000 2 2006 2008
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
0.882 0.080 1 147760632 intron variant T/A;C snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.010 1.000 1 2017 2017
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
0.882 0.080 1 147760632 intron variant T/A;C snv
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2017 2017
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
0.882 0.080 1 147760632 intron variant T/A;C snv
CUI: C0340489
Disease: Lone atrial fibrillation
Lone atrial fibrillation 		0.010 1.000 1 2013 2013
dbSNP: rs10798882
rs10798882
PEF1 ; PEF1-AS1
1 31642946 intron variant C/G snv 0.58
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2017 2017