Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)

Chromosome 2:237336278 (forward strand) | View in location tab


with HGMD-PUBLIC CM050237 ; PhenCode COL6A3:c.8822C>T (G/A)

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5, Illumina_ExomeChip

About this variant

This variant overlaps 9 transcripts, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays