Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y|MAF: 0.06 (C)
Location

Chromosome 7:128948946 (forward strand)|View in location tab

Most severe consequence
 
3 prime UTR variant
Evidence status

Clinical significance

Synonyms

LSDB SCV000023725

HGVS names

This variant has 6 HGVS names - Hide

7:g.128948946T>C
ENST00000249375.8:c.*128T>C
ENST00000619830.1:c.*1123T>C
ENST00000465603.5:c.*1153T>C
ENST00000473745.5:c.*128T>C
ENST00000402030.6:c.*128T>C

Genotyping chips

This variant has assays on: Illumina_ImmunoChip, Illumina_HumanOmni5

About this variant

This variant overlaps 15 transcripts, has 2508 sample genotypes, is associated with 2 phenotypes and is mentioned in 39 citations.

Variant displays