Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM043542

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - 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