PhenoModifier-Variant Detail

Variant "RSPO3:n.127068983T>C"

Search result: 1 record

Variant information

Gene:

RSPO3

Variant:

RSPO3:n.127068983T>C

Genomic location:

chr6:127068983(hg19)

HGVS:

SO Term	RefSeq
	MIR588-RSPO3:n.127068983T>C

dbSNP ID:

rs853974

GWAS trait:

sclerosing cholangitis,type II diabetes mellitus

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Target disease:

Primary Sclerosing Cholangitis (DOID_0060643)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

Variant rs853974 at the RSPO3 gene locus shown to modulate the course of PSC

Reference:

PMID29055915

Title:

Search for Genetic Modifiers of PSC: Time to Increase the Number of Needles in the Haystack.

Species studied:

Human

Abstract:

Primary sclerosing cholangitis (PSC) belongs to the most obscure liver diseases. Patients with progressive PSC require liver transplantation as only therapeutic option. Previously several HLA- and non-HLA-associated PSC risk variants have been discovered, however their involvement in the development of PSC seems to be minor in comparison to environmental determinants. Lately, variant rs853974 at the RSPO3 gene locus has been shown to modulate the course of PSC. Here we briefly discuss the phenotypes related to this polymorphism and propose alternative directions of research that might help to identify new genetic modifiers of PSC progression.