rs267607048, SHOC2

N. diseases: 16
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.
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
CUI: C4478716
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
2 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.800 1.000 8 2009 2015
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.750 1.000 9 2009 2019
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 12 2009 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 7 2009 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 7 2009 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 7 2009 2015
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
7 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 0
Noonan-Like Syndrome With Loose Anagen Hair
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
4 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.050 1.000 5 2009 2015
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
CUI: C1834120
Disease: NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
2 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010