DisGeNET - a database of gene-disease associations

Osteogenesis imperfecta type IV (disorder), C0268363

Variant: rs72659319 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72659319

rs72659319

COL1A2

A

0.700

CausalMutation

CLINVAR

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

2015

dbSNP:

rs72659319

rs72659319

COL1A2

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs72659319

rs72659319

COL1A2

C

0.700

CausalMutation

CLINVAR