GHR, growth hormone receptor, 2690

N. diseases: 10; N. variants: 31
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499692
rs1060499692 		1.000 0.120 5 42694931 stop gained G/A snv
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909359
rs121909359 		1.000 0.120 5 42688921 stop gained C/A snv 1.6E-05 1.4E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909360
rs121909360 		1.000 0.120 5 42699978 synonymous variant A/G snv 2.0E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909363
rs121909363 		1.000 0.120 5 42711291 stop gained C/T snv 2.0E-05 7.7E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909364
rs121909364 		1.000 5 42711312 stop gained G/A;T snv 4.8E-05
CUI: C4016706
Disease: LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN 		0.700 0
dbSNP: rs121909365
rs121909365 		0.925 0.120 5 42699830 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C4016706
Disease: LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN 		0.700 0
dbSNP: rs121909370
rs121909370 		1.000 0.120 5 42629069 stop gained G/A;C snv
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909371
rs121909371 		1.000 0.120 5 42694953 stop gained C/A snv
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909372
rs121909372 		1.000 0.120 5 42694985 missense variant G/C snv
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121909373
rs121909373 		1.000 0.120 5 42699888 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C1866239
Disease: Mesomelic/rhizomelic limb shortening
Mesomelic/rhizomelic limb shortening 		0.700 0
dbSNP: rs143814221
rs143814221 		0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C0544755
Disease: Genu varum
Genu varum 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554040858
rs1554040858 		1.000 0.120 5 42718121 splice region variant G/A snv
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs190314158
rs190314158 		1.000 0.120 5 42695014 missense variant T/C;G snv 4.0E-06
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs45588036
rs45588036 		1.000 0.120 5 42711314 missense variant G/C snv 2.0E-05 5.6E-05
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs730880281
rs730880281 		1.000 0.120 5 42711206 splice acceptor variant G/T snv 4.0E-06
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs730880282
rs730880282 		1.000 5 42713519 missense variant G/C snv
CUI: C4016705
Disease: LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN
LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN 		0.700 0
dbSNP: rs730880308
rs730880308 		1.000 0.120 5 42718051 splice acceptor variant G/C snv
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886037910
rs886037910 		0.925 0.160 5 42699943 missense variant T/C snv
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0