DisGeNET - a database of gene-disease associations

Polydactyly, C0152427

Variant: rs912923677 ×

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:

rs912923677

rs912923677

MKKS

0.010

GeneticVariation

BEFREE

We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only RP and polydactyly.

2016