DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Achondroplasia ×

Variant: rs28931614 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28931614

rs28931614

FGFR3

CUI:	C0001080
Disease:	Achondroplasia

Achondroplasia

C

0.900

CausalMutation

CLINVAR

dbSNP:

rs28931614

rs28931614

FGFR3

CUI:	C0001080
Disease:	Achondroplasia

Achondroplasia

A

0.900

CausalMutation

CLINVAR