KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: COLD-INDUCED SWEATING SYNDROME 1 ×
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: rs780705654
rs780705654 		0.925 0.200 7 23167916 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255556
rs879255556 		0.925 0.200 7 23167919 missense variant T/A snv
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255557
rs879255557 		0.925 0.200 7 23165780 frameshift variant T/- delins
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255558
rs879255558 		0.925 0.200 7 23165876 missense variant G/A snv
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0