DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs28928901 ×

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:

rs28928901

LMNA

0.882

0.120

156134829

missense variant

C/T

snv

CUI:	C0410189
Disease:	Muscular Dystrophy, Emery-Dreifuss

Muscular Dystrophy, Emery-Dreifuss

0.700

dbSNP:

rs28928901

LMNA

0.882

0.120

156134829

missense variant

C/T

snv

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

dbSNP:

rs28928901

LMNA

0.882

0.120

156134829

missense variant

C/T

snv

CUI:	C2750035
Disease:	Emery-Dreifuss Muscular Dystrophy 3

Emery-Dreifuss Muscular Dystrophy 3

0.700