Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_132_HBB_141900_0424, 3144, HbVar.493

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