Original source

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

A/G | Ancestral: A | Ambiguity code: R

Chromosome 11:5225698 (forward strand) | View in location tab


with HGMD-PUBLIC CM920325, CD880093 ; PhenCode HbVar.493 (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_132_HBB_141900_0424, HbVar.493, 3144

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 1 sample genotype, is associated with 4 phenotypes and is mentioned in 3 citations.

Variant displays