Original source

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

Alleles
C/T|Ancestral: T|Ambiguity code: Y|MAF: 0.08 (T)
Location

Chromosome 21:42388518 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 7 transcripts, has 2822 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays