Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y|MAF: 0.14 (C)
Location

Chromosome 2:47795976 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3758252 ; PhenCode MMR_c.540T>C (T/C)

Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 16 transcripts, has 4003 sample genotypes, is associated with 3 phenotypes and is mentioned in 8 citations.

Variant displays