DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1554236040 ×

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:

rs1554236040

rs1554236040

ARID1B

0.882

0.320

6

157201464

stop gained

C/T

snv

CUI:	C0013595
Disease:	Eczema

Eczema

0.700

dbSNP:

rs1554236040

rs1554236040

ARID1B

0.882

0.320

6

157201464

stop gained

C/T

snv

CUI:	C0266589
Disease:	Congenital ear anomaly NOS (disorder)

Congenital ear anomaly NOS (disorder)

0.700

dbSNP:

rs1554236040

rs1554236040

ARID1B

0.882

0.320

6

157201464

stop gained

C/T

snv

CUI:	C3281201
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

0.700

dbSNP:

rs1554236040

rs1554236040

ARID1B

0.882

0.320

6

157201464

stop gained

C/T

snv

CUI:	C0020534
Disease:	Orbital separation excessive

Orbital separation excessive

0.700

dbSNP:

rs1554236040

rs1554236040

ARID1B

0.882

0.320

6

157201464

stop gained

C/T

snv

CUI:	C1184923
Disease:	Lumbar hyperlordosis

Lumbar hyperlordosis

0.700