Original source

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

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

Chromosome 11:36593525 (forward strand) | View in location tab


with PhenCode RAG2base_RAG2_DNA:g.5712C>T (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 44 transcripts, has 2632 sample genotypes and is associated with 2 phenotypes.

Variant displays