Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.09 (G)
Location

Chromosome 2:47790942 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4133863 ; PhenCode MMR_c.276A>G (A/G)

Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 15 transcripts, has 4336 sample genotypes, is associated with 3 phenotypes and is mentioned in 10 citations.

Variant displays