DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs760187215 ×

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:

rs760187215

rs760187215

MYH7

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

CUI:	C4476545
Disease:	Dilatation of the ventricular cavity

Dilatation of the ventricular cavity

0.700

dbSNP:

rs760187215

rs760187215

MYH7

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

0.700

dbSNP:

rs760187215

rs760187215

MYH7

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

CUI:	C4021133
Disease:	Left ventricular noncompaction cardiomyopathy

Left ventricular noncompaction cardiomyopathy

0.700

dbSNP:

rs760187215

rs760187215

MYH7

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

CUI:	C0424551
Disease:	Impaired exercise tolerance

Impaired exercise tolerance

0.700

dbSNP:

rs760187215

rs760187215

MYH7

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

dbSNP:

rs760187215

rs760187215

MYH7

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

CUI:	C0855329
Disease:	Electrocardiogram change

Electrocardiogram change

0.700