Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72544145
rs72544145
0.925 0.080 11 118168739 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C3809312
Disease: ATRIAL FIBRILLATION, FAMILIAL, 14
ATRIAL FIBRILLATION, FAMILIAL, 14
0.800 0
dbSNP: rs11607985
rs11607985
11 118159083 non coding transcript exon variant C/A;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2008 2008
dbSNP: rs11608072
rs11608072
11 118159371 non coding transcript exon variant G/C snv 8.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2008 2008
dbSNP: rs17121819
rs17121819
0.925 0.080 11 118168740 missense variant G/A snv 9.2E-05 7.7E-05
CUI: C3809312
Disease: ATRIAL FIBRILLATION, FAMILIAL, 14
ATRIAL FIBRILLATION, FAMILIAL, 14
0.700 0
dbSNP: rs1352950843
rs1352950843
1.000 0.080 11 118168281 frameshift variant CG/- delins
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17121819
rs17121819
0.925 0.080 11 118168740 missense variant G/A snv 9.2E-05 7.7E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs201460753
rs201460753
1.000 0.080 11 118168282 missense variant C/A;T snv 4.0E-06; 4.0E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs587777023
rs587777023
1.000 0.080 11 118166903 missense variant T/C snv 8.0E-06 2.1E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs602594
rs602594
1.000 11 118169895 intron variant C/T snv 0.21
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy
0.010 1.000 1 2014 2014
dbSNP: rs72544145
rs72544145
0.925 0.080 11 118168739 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009