Original source

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

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

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

Co-located

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_HumanOmni2.5, Illumina_ExomeChip

About this variant

This variant overlaps 9 transcripts, has 2506 individual genotypes and is associated with 1 phenotype.

Variation displays