Original source

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

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

Chromosome 11:112087953 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM022244

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 20 transcripts, has 2506 sample genotypes and is associated with 8 phenotypes.

Variant displays