Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)

Chromosome 21:42383216 (forward strand) | View in location tab

Most severe consequence
Non coding transcript exon variant
Evidence status

Clinical significance


LSDB 18214966

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5, Affy GenomeWideSNP_6.0, Illumina_HumanOmni5

About this variant

This variant overlaps 8 transcripts, has 3104 sample genotypes and is associated with 1 phenotype.

Variant displays