Original source

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

Alleles
T/C|Ancestral: C|Ambiguity code: Y|MAF: 0.26 (T)
Location

Chromosome 11:17388025 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981121

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 9 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 11 transcripts, has 2537 sample genotypes, is associated with 8 phenotypes and is mentioned in 105 citations.

Variant displays