DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs587782958 ×

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:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

1.000

2009

2013

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

0.700

1.000

1986

2010

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C0151636
Disease:	Premature ventricular contractions

Premature ventricular contractions

0.700

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C3715165
Disease:	LEFT VENTRICULAR NONCOMPACTION 10

LEFT VENTRICULAR NONCOMPACTION 10

0.700

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C1861862
Disease:	Familial Hypertrophic Cardiomyopathy Type 4

Familial Hypertrophic Cardiomyopathy Type 4

0.700

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C0039231
Disease:	Tachycardia

Tachycardia

0.700

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C0018794
Disease:	Heart Block

Heart Block

0.700

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C1839832
Disease:	Noncompaction cardiomyopathy

Noncompaction cardiomyopathy

0.700

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

0.700

dbSNP:

rs587782958

rs587782958

MYBPC3

0.790

0.120

11

47333552

splice region variant

C/T

snv

1.7E-05

CUI:	C0205700
Disease:	Asymmetric Septal Hypertrophy

Asymmetric Septal Hypertrophy

0.700