Original source

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

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

Most severe consequence
 
Missense variant
Evidence status

Synonyms

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