DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs869248137 ×

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:

rs869248137

rs869248137

BAG3

0.882

0.120

10

119676479

stop gained

C/A;T

snv

4.0E-06

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

1.000

2011

2014

dbSNP:

rs869248137

rs869248137

BAG3

0.882

0.120

10

119676479

stop gained

C/A;T

snv

4.0E-06

CUI:	C2751831
Disease:	Myopathy, Myofibrillar, Bag3-Related

Myopathy, Myofibrillar, Bag3-Related

0.700

1.000

2014

2014

dbSNP:

rs869248137

rs869248137

BAG3

0.882

0.120

10

119676479

stop gained

C/A;T

snv

4.0E-06

CUI:	C3151293
Disease:	CARDIOMYOPATHY, DILATED, 1HH

CARDIOMYOPATHY, DILATED, 1HH

0.700

1.000

2014

2014

dbSNP:

rs869248137

rs869248137

BAG3

0.882

0.120

10

119676479

stop gained

C/A;T

snv

4.0E-06

CUI:	C0340427
Disease:	Familial dilated cardiomyopathy

Familial dilated cardiomyopathy

0.700