DisGeNET - a database of gene-disease associations

ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT, C1876214

Variant: rs965705838 ×

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:

rs965705838

rs965705838

MITF

0.010

GeneticVariation

BEFREE

K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation.

2017