Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.49 (C)
Location

Chromosome 2:48963902 (forward strand) | View in location tab

Co-located

with COSMIC COSM3927764 (C/T) ; HGMD-PUBLIC CM062747

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 10 HGVS names - click the plus to show

This variation has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2656 individual genotypes, is associated with 2 phenotypes and is mentioned in 15 citations.

Variation displays