DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs398123640 ×

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:

rs398123640

rs398123640

COL6A1

1.000

0.120

21

45989093

missense variant

G/A;C

snv

CUI:	C1834674
Disease:	BETHLEM MYOPATHY 1

BETHLEM MYOPATHY 1

0.700

1.000

2005

2017

dbSNP:

rs398123640

rs398123640

COL6A1

1.000

0.120

21

45989093

missense variant

G/A;C

snv

CUI:	C0476403
Disease:	Electromyogram abnormal

Electromyogram abnormal

0.700

dbSNP:

rs398123640

rs398123640

COL6A1

1.000

0.120

21

45989093

missense variant

G/A;C

snv

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.700

dbSNP:

rs398123640

rs398123640

COL6A1

1.000

0.120

21

45989093

missense variant

G/A;C

snv

CUI:	C1858127
Disease:	Limb-girdle muscle weakness

Limb-girdle muscle weakness

0.700