Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: < 0.01 (T)
Location

Chromosome 21:42383168 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM054158

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 16 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays