Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

with HGMD-PUBLIC CR078267

Most severe consequence
 
Non coding transcript exon variant
Evidence status

Synonyms

Archive dbSNP rs17467153, rs61163584

This variant has 5 HGVS names - click the plus to show

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

This variant has assays on 14 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, 2 regulatory features, has 2507 sample genotypes, is associated with 11 phenotypes and is mentioned in 407 citations.

Variant displays