DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs267606706 ×

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:

rs267606706

CBL

0.807

0.240

119278181

missense variant

T/A;C

snv

8.0E-06

CUI:	C0376545
Disease:	Hematologic Neoplasms

Hematologic Neoplasms

0.700

1.000

2013

dbSNP:

rs267606706

CBL

0.807

0.240

119278181

missense variant

T/A;C

snv

8.0E-06

CUI:	C4016301
Disease:	NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

0.700

dbSNP:

rs267606706

CBL

0.807

0.240

119278181

missense variant

T/A;C

snv

8.0E-06

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs267606706

CBL

0.807

0.240

119278181

missense variant

T/A;C

snv

8.0E-06

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

dbSNP:

rs267606706

CBL

0.807

0.240

119278181

missense variant

T/A;C

snv

8.0E-06

CUI:	C0016842
Disease:	Congenital pectus excavatum

Congenital pectus excavatum

0.700

dbSNP:

rs267606706

CBL

0.807

0.240

119278181

missense variant

T/A;C

snv

8.0E-06

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.700