Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K|MAF: 0.29 (T)
Location

Chromosome 10:122454932 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM066533

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

10:g.122454932G>T
ENST00000528446.1:c.205G>T
ENSP00000436682.1:p.Ala69Ser

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 1 transcript, has 4019 sample genotypes, is associated with 17 phenotypes and is mentioned in 229 citations.

Variant displays