Original source

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

Alleles
T/A/G|Ancestral: T|Ambiguity code: D|MAF: 0.16 (T)
Location

Chromosome 1:197356778 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

Synonyms
HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
1:g.197356778T>A
ENST00000367399.6:c.653-53T>A
ENST00000484075.5:c.989-53T>A
ENST00000535699.5:c.782-53T>A
ENST00000538660.5:c.989-53T>A
ENST00000475659.1:n.1126-53T>A
ENST00000367400.7:c.989-53T>A

Variant allele G
1:g.197356778T>G
ENST00000367399.6:c.653-53T>G
ENST00000484075.5:c.989-53T>G
ENST00000535699.5:c.782-53T>G
ENST00000538660.5:c.989-53T>G
ENST00000475659.1:n.1126-53T>G
ENST00000367400.7:c.989-53T>G

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 3767 sample genotypes, is associated with 1 phenotype and is mentioned in 7 citations.

Variant displays