Original source

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

A/G/T | Ancestral: A | Ambiguity code: D | MAF: < 0.01 (G)

Chromosome 11:5225488 (forward strand) | View in location tab


with HGMD-PUBLIC CR045224, CR014260, CR850010 ; PhenCode HbVar.968 (A/G)

Most severe consequence
3 prime UTR variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 6 citations.

Variant displays