Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K|MAF: 0.39 (T)
Location

Chromosome 8:127401060 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CR078267

Most severe consequence
 
Non coding transcript exon variant
Evidence status

Synonyms

Archive dbSNP rs17467153, rs61163584

HGVS names

This variant has 5 HGVS names - Hide

8:g.127401060G>T
ENST00000630920.1:n.662G>T
ENST00000502082.5:n.1176+19769C>A
ENST00000501396.5:n.546+19769C>A
ENST00000523825.1:n.546+19769C>A

Genotyping chips

This variant has assays on 14 chips - Show

About this variant

This variant overlaps 4 transcripts, 2 regulatory features, has 3758 sample genotypes, is associated with 11 phenotypes and is mentioned in 471 citations.

Variant displays