DisGeNET - a database of gene-disease associations

Dwarfism, C0013336

Variant: rs577492 ×

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs577492

rs577492

LMNA

0.010

GeneticVariation

BEFREE

The minor G-allele of rs577492 was associated with elevated fasting serum cholesterol and short stature (P = 3.0 .10(-5) and P = 7.0 .10(-4)).

2007