DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs387907144 ×

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:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C3281201
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C4023681
Disease:	Delayed fine motor development

Delayed fine motor development

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C1853738
Disease:	Long eyelashes

Long eyelashes

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0042580
Disease:	Vesico-Ureteral Reflux

Vesico-Ureteral Reflux

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0240635
Disease:	Byzanthine arch palate

Byzanthine arch palate

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C1858036
Disease:	Periorbital fullness

Periorbital fullness

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0264303
Disease:	Laryngomalacia

Laryngomalacia

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0855740
Disease:	Abnormal platelet function

Abnormal platelet function

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0344482
Disease:	Hypoplasia of corpus callosum

Hypoplasia of corpus callosum

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C1857486
Disease:	Low-set, posteriorly rotated ears

Low-set, posteriorly rotated ears

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0678230
Disease:	Congenital Epicanthus

Congenital Epicanthus

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C1857353
Disease:	Posterior fossa cyst

Posterior fossa cyst

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C1839739
Disease:	Thick lower lip vermilion

Thick lower lip vermilion

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C4073145
Disease:	Hyperkeratosis pilaris

Hyperkeratosis pilaris

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C1849538
Disease:	Delayed eruption of primary teeth

Delayed eruption of primary teeth

0.700

1.000

2012

2015

dbSNP:

rs387907144

ARID1B

0.716

0.600

157181056

stop gained

C/A;T

snv

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.700

1.000

2012

2015