EnsemblEnsembl Home
Human (GRCh38.p12)
Most severe consequence
 
missense variant
Alleles
A/G/T|Ancestral: G|MAF: 0.44 (A)|Highest population MAF: 0.49
Location

Chromosome 15:48134287 (forward strand)|VCF:15  48134287  rs1426654  A  G,T

Co-located variant

HGMD-PUBLIC CM054862

Evidence status

Clinical significance

HGVS names

This variant has 18 HGVS names - Show

Synonyms

This variant has 8 synonyms - Show

Genotyping chips

This variant has assays on 8 chips - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 151)|View in dbSNP

About this variant

This variant overlaps 3 transcripts, has 3619 sample genotypes, is associated with 6 phenotypes and is mentioned in 48 citations.

Variant displays