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 11:47338520 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043542

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 5 transcripts, has 2 sample genotypes, is associated with 4 phenotypes and is mentioned in 4 citations.

Variant displays