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:	C4225276
Disease:	EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME

EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME

0.700

1.000

2015

2017

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:	C0036572
Disease:	Seizures

Seizures

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:	C0221356
Disease:	Brachycephaly

Brachycephaly

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

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1850325
Disease:	Labial hypoplasia

Labial hypoplasia

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0152020
Disease:	Gastroparesis

Gastroparesis

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4072908
Disease:	Induced vaginal delivery

Induced vaginal delivery

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1185616
Disease:	Hair whorls

Hair whorls

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1836047
Disease:	Long face

Long face

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0013384
Disease:	Dyskinetic syndrome

Dyskinetic syndrome

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0426886
Disease:	Tapering fingers (finding)

Tapering fingers (finding)

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0240635
Disease:	Byzanthine arch palate

Byzanthine arch palate

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0240116
Disease:	Hyperactive patellar reflex

Hyperactive patellar reflex

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0162538
Disease:	Immunoglobulin A deficiency (disorder)

Immunoglobulin A deficiency (disorder)

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0235946
Disease:	Cerebral atrophy

Cerebral atrophy

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0239998
Disease:	Recurrent infections

Recurrent infections

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C0037317
Disease:	Sleep disturbances

Sleep disturbances

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4023014
Disease:	Stereotypical hand wringing

Stereotypical hand wringing

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

0.700

dbSNP:

rs796052243

SPATA5

0.695

0.520

122934574

inframe deletion

CAA/-

delins

CUI:	C4021338
Disease:	Broad proximal phalanx of the hallux

Broad proximal phalanx of the hallux

0.700