Original source

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

Alleles
T/C|Ancestral: C|Ambiguity code: Y|MAF: 0.24 (C)
Location

Chromosome 21:42383058 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 8 transcripts, has 3800 sample genotypes, is associated with 1 phenotype and is mentioned in 3 citations.

Variant displays