This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM054158

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 36 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 24 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays