rs398123009, PACS1

N. diseases: 19
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
1 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.810 1.000 3 2012 2019
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 1.000 6 1998 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 1.000 6 1998 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 1.000 1 2015 2015
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Crumpled ear
CUI: C4024166
Disease: Crumpled ear
5 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Facial hemangioma
CUI: C1861443
Disease: Facial hemangioma
2 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Horseshoe Kidney
CUI: C0221353
Disease: Horseshoe Kidney
3 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Large nose
CUI: C0426415
Disease: Large nose
7 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Pallor of optic disc
CUI: C0554970
Disease: Pallor of optic disc
4 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
10 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Widely spaced teeth
CUI: C1844813
Disease: Widely spaced teeth
10 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017