RNF216, ring finger protein 216, 54476

N. diseases: 47; N. variants: 9
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: rs1335215379
rs1335215379 		1.000 0.120 7 5652423 missense variant G/A snv
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs148642312
rs148642312 		1.000 0.120 7 5721061 missense variant T/A;C snv 1.2E-04; 4.0E-06
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1562451985
rs1562451985 		1.000 0.120 7 5741816 splice acceptor variant C/G snv
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs373785974
rs373785974 		1.000 0.120 7 5741113 stop gained G/A;C snv 8.0E-06
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387907368
rs387907368 		1.000 0.120 7 5641285 missense variant G/A snv
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387907369
rs387907369 		1.000 0.120 7 5715095 stop gained A/T snv
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387907370
rs387907370 		1.000 0.120 7 5741401 frameshift variant CT/- delins
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs730882248
rs730882248 		0.925 0.160 7 5711761 splice region variant C/T snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.700 0
dbSNP: rs730882248
rs730882248 		0.925 0.160 7 5711761 splice region variant C/T snv
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs794728000
rs794728000 		1.000 0.120 7 5729454 missense variant C/T snv
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases 0.700 0