Source: CLINVAR

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: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		0.810 1.000 2 2012 2019
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 1998 2018
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1998 2018
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2015 2015
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0