Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 11:5225486 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CR057232, CR900266 ; PhenCode HbVar.2720 (T/A), HbVar.970 (T/C)

Most severe consequence
 
3 prime UTR variant
Evidence status

Clinical significance

Synonyms

LSDB HbVar.970, HbVar.2720

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays