DisGeNET - a database of gene-disease associations

Short Rib-Polydactyly Syndrome, C0036996

Variant: rs555811074 ×

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:

rs555811074

rs555811074

WDR34

0.010

GeneticVariation

BEFREE

This study was the first to identify c.544C > T [p.Arg182Trp] mutation in WDR34 in a patient with SRPS.

2017