Original source

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

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

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


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

Most severe consequence
3 prime UTR variant
Evidence status

Clinical significance


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