Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.38 (T)

Chromosome 21:42385547 (forward strand) | View in location tab

Most severe consequence
Intron variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 8 transcripts, has 3960 sample genotypes and is associated with 1 phenotype.

Variant displays