rs199473457, KCNQ1

N. diseases: 12
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 0.827 0.200 11 2572020 missense variant C/A;T snv 0.810 1.000 27 1996 2015
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Flat face
CUI: C1853241
Disease: Flat face
7 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Narrow palate
CUI: C1398312
Disease: Narrow palate
5 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
13 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.827 0.200 11 2572020 missense variant C/A;T snv 0.010 1.000 1 2011 2011