Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 11:5225698 (forward strand) | View in location tab


with HGMD-PUBLIC CD880093, CM920325 ; PhenCode HbVar.493 (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 1 sample genotype, is associated with 4 phenotypes and is mentioned in 3 citations.

Variant displays