Original source

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

Alleles
G/A|Ancestral: A|Ambiguity code: R|MAF: 0.46 (G)
Location

Chromosome 7:128949373 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CR072316

Most severe consequence
 
3 prime UTR variant
Evidence status

Clinical significance

Synonyms

LSDB SCV000023724

HGVS names

This variant has 5 HGVS names - Hide

7:g.128949373G>A
ENST00000465603.5:c.*1580G>A
ENST00000249375.8:c.*555G>A
ENST00000402030.6:c.*555G>A
ENST00000473745.5:c.*555G>A

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 17 transcripts, has 2509 sample genotypes, is associated with 2 phenotypes and is mentioned in 63 citations.

Variant displays