Original source

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

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

Chromosome 11:5225710 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM870012 ; PhenCode HbVar.485 (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB HBB_332T_C_042011, 2010_April_001_112_HBB_141900_0262, 2983, HbVar.485

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 2 sample genotypes, is associated with 5 phenotypes and is mentioned in 7 citations.

Variant displays