DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs796052243 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1865866
Disease:	Congenital sensorineural hearing loss

Congenital sensorineural hearing loss

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4073184
Disease:	Thick hair

Thick hair

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0151891
Disease:	Retinal depigmentation

Retinal depigmentation

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0426790
Disease:	Narrow thorax

Narrow thorax

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1844562
Disease:	Medial flaring of the eyebrow

Medial flaring of the eyebrow

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0151611
Disease:	Electroencephalogram abnormal

Electroencephalogram abnormal

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4520847
Disease:	Immunoglobulin G subclass deficiency (finding)

Immunoglobulin G subclass deficiency (finding)

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0240379
Disease:	Open mouth (finding)

Open mouth (finding)

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0026838
Disease:	Muscle Spasticity

Muscle Spasticity

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1820737
Disease:	Temperature instability

Temperature instability

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0578038
Disease:	Thin lips

Thin lips

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0038273
Disease:	Stereotypic Movement Disorder

Stereotypic Movement Disorder

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4024780
Disease:	Almond-shaped palpebral fissure

Almond-shaped palpebral fissure

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4551570
Disease:	2-3 toe syndactyly

2-3 toe syndactyly

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0004106
Disease:	Astigmatism

Astigmatism

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1868571
Disease:	Highly arched eyebrow

Highly arched eyebrow

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0235659
Disease:	Reduced fetal movement

Reduced fetal movement

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0231678
Disease:	Ulnar deviation of the wrist

Ulnar deviation of the wrist

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1859442
Disease:	Minimal subcutaneous fat

Minimal subcutaneous fat

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1328407
Disease:	Hip Dysplasia

Hip Dysplasia

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1844813
Disease:	Widely spaced teeth

Widely spaced teeth

0.700