Original source

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

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

Chromosome 21:42388417 (forward strand)|View in location tab

Co-located variant

dbSNP rs780609668 (T/-)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni5

About this variant

This variant overlaps 14 transcripts, has 2545 sample genotypes and is associated with 1 phenotype.

Variant displays