Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 22:50529579 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM024595

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 21 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 27 transcripts, 1 regulatory feature, has 1 sample genotype and is associated with 1 phenotype.

Variant displays