KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Source: ALL
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: rs137853112
rs137853112 		0.925 0.080 7 23140775 missense variant G/A snv
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2009 2011
dbSNP: rs137853113
rs137853113 		0.925 0.080 7 23140784 missense variant C/T snv
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2009 2011
dbSNP: rs137853114
rs137853114 		0.925 0.080 7 23140783 missense variant G/A snv
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2009 2011
dbSNP: rs879255556
rs879255556 		0.925 0.200 7 23167919 missense variant T/A snv
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 1.000 1 2016 2016
dbSNP: rs879255558
rs879255558 		0.925 0.200 7 23165876 missense variant G/A snv
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 1.000 1 2016 2016
dbSNP: rs780705654
rs780705654 		0.925 0.200 7 23167916 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.800 0
dbSNP: rs1182983579
rs1182983579 		1.000 0.080 7 23125163 missense variant A/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs137853113
rs137853113 		0.925 0.080 7 23140784 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554286384
rs1554286384 		1.000 0.080 7 23125152 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554289078
rs1554289078 		0.925 0.080 7 23140945 splice donor variant G/A snv
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554289078
rs1554289078 		0.925 0.080 7 23140945 splice donor variant G/A snv
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		0.700 0
dbSNP: rs1554289078
rs1554289078 		0.925 0.080 7 23140945 splice donor variant G/A snv
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		0.700 0
dbSNP: rs1554293056
rs1554293056 		7 23167854 stop gained T/A snv
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		0.700 0
dbSNP: rs1554293083
rs1554293083 		7 23167948 frameshift variant C/- delins
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0431670
Disease: Webbed penis
Webbed penis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0
dbSNP: rs77078070
rs77078070 		0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0