Original source

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

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

Chromosome 8:132888417 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930702

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 1 transcript, has 2958 sample genotypes and is associated with 2 phenotypes.

Variant displays