DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs875989800 ×

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:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1836327
Disease:	RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)

RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)

0.700

1.000

2012

2014

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C3553248
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

0.700

1.000

2014

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1853487
Disease:	Thick eyebrow

Thick eyebrow

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0011813
Disease:	Dextrocardia

Dextrocardia

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1846423
Disease:	Thick upper lip vermilion

Thick upper lip vermilion

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C3489393
Disease:	Hiatal Hernia

Hiatal Hernia

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1853738
Disease:	Long eyelashes

Long eyelashes

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0010417
Disease:	Cryptorchidism

Cryptorchidism

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C4023116
Disease:	Hypoplastic fifth toenail

Hypoplastic fifth toenail

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0240635
Disease:	Byzanthine arch palate

Byzanthine arch palate

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1854111
Disease:	Broad philtrum

Broad philtrum

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C4023342
Disease:	Gastrostomy tube feeding in infancy

Gastrostomy tube feeding in infancy

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0042798
Disease:	Low Vision

Low Vision

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1839739
Disease:	Thick lower lip vermilion

Thick lower lip vermilion

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0002418
Disease:	Amblyopia

Amblyopia

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1857042
Disease:	Sparse scalp hair

Sparse scalp hair

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1859077
Disease:	Aplasia/Hypoplasia of the nails

Aplasia/Hypoplasia of the nails

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C1842581
Disease:	Abnormal corpus callosum morphology

Abnormal corpus callosum morphology

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C4024682
Disease:	Hypoplastic fifth fingernail

Hypoplastic fifth fingernail

0.700

dbSNP:

rs875989800

SMARCB1

0.732

0.480

23833670

inframe deletion

AGA/-

delins

CUI:	C0239998
Disease:	Recurrent infections

Recurrent infections

0.700