DisGeNET - a database of gene-disease associations

CORNELIA DE LANGE SYNDROME 4, C3553517

Variant: rs387907212 ×

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:

rs387907212

rs387907212

RAD21

0.800

GeneticVariation

UNIPROT

RAD21 mutations cause a human cohesinopathy.

2012

dbSNP:

rs387907212

rs387907212

RAD21

C

0.800

CausalMutation

CLINVAR

RAD21 mutations cause a human cohesinopathy.

2012