This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 11:5225678 (forward strand) | View in location tab


with HGMD-PUBLIC CM930381, CM860012, CM900124 ; PhenCode HbVar.509 (C/G), HbVar.510 (C/T), HbVar.951 (C/A)

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 12 phenotypes and is mentioned in 24 citations.

Variant displays