rs12720458, KCNQ1

N. diseases: 20
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.800 1.000 1 2013 2013
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 1.000 8 2005 2016
Abnormality of the nares
CUI: C4021637
Disease: Abnormality of the nares
2 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Atrial Fibrillation, Familial, 3
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
10 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Beckwith-Wiedemann Syndrome
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
84 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Clinodactyly of toe
CUI: C4021770
Disease: Clinodactyly of toe
2 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Diffuse white matter abnormalities
CUI: C4024923
Disease: Diffuse white matter abnormalities
4 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Generalized neonatal hypotonia
CUI: C1845123
Disease: Generalized neonatal hypotonia
3 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Jervell And Lange-Nielsen Syndrome 1
23 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Large nostrils
CUI: C0426440
Disease: Large nostrils
2 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
SHORT QT SYNDROME 2 (disorder)
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
9 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0