DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057518918 ×

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:

rs1057518918

rs1057518918

ARID1B

0.882

0.160

6

157184329

frameshift variant

C/-

delins

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs1057518918

rs1057518918

ARID1B

0.882

0.160

6

157184329

frameshift variant

C/-

delins

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs1057518918

rs1057518918

ARID1B

0.882

0.160

6

157184329

frameshift variant

C/-

delins

CUI:	C0020555
Disease:	Hypertrichosis

Hypertrichosis

0.700

dbSNP:

rs1057518918

rs1057518918

ARID1B

0.882

0.160

6

157184329

frameshift variant

C/-

delins

CUI:	C0431663
Disease:	Bilateral Cryptorchidism

Bilateral Cryptorchidism

0.700

dbSNP:

rs1057518918

rs1057518918

ARID1B

0.882

0.160

6

157184329

frameshift variant

C/-

delins

CUI:	C0037822
Disease:	Speech Disorders

Speech Disorders

0.700

dbSNP:

rs1057518918

rs1057518918

ARID1B

0.882

0.160

6

157184329

frameshift variant

C/-

delins

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700