Original source

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

C/G/T | Ancestral: C | Ambiguity code: B | MAF: 0.27 (T)

Chromosome 6:49444720 (forward strand) | View in location tab


with HGMD-PUBLIC CD109982

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 9 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 2 transcripts, has 4335 sample genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variant displays