Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (A)
Location

Chromosome 11:27658560 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM023769

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 88 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 54 transcripts, has 2925 sample genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays