Original source

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

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

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

Co-located variants
Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 16 transcripts, has 2544 sample genotypes and is associated with 1 phenotype.

Variant displays