Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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


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

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni2.5

About this variant

This variant overlaps 9 transcripts, has 1094 individual genotypes and is associated with 2 phenotypes.

Variation displays