DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) ×

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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:

rs58932704

LMNA

0.776

0.200

156136413

missense variant

C/T

snv

CUI:	C1834653
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

0.700

1.000

2016

dbSNP:

rs267607632

LMNA

0.851

0.120

156134976

splice donor variant

G/A;C

snv

CUI:	C1834653
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

0.700

dbSNP:

rs386134243

LMNA

0.708

0.360

156135967

missense variant

C/A;T

snv

4.0E-06

CUI:	C1834653
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

0.700

dbSNP:

rs60682848

LMNA

0.790

0.200

156134838

stop gained

C/T

snv

7.0E-06

CUI:	C1834653
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

0.700