Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.20 (T)
Location

Chromosome 11:27658369 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020369

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 44 HGVS names - Show

Genotyping chips

This variant has assays on 15 chips - Show

About this variant

This variant overlaps 27 transcripts, has 4259 sample genotypes, is associated with 12 phenotypes and is mentioned in 359 citations.

Variant displays