This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
G/A/C/T | Ancestral: G | Ambiguity code: N | MAF: 0.02 (A)
Location

Chromosome 21:46112542 (forward strand) | View in location tab

Co-located

with PhenCode COL6A2:c.679G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 39 HGVS names - click the plus to show

This variant has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 24 transcripts, has 2544 sample genotypes and is associated with 1 phenotype.

Variant displays