Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.41 (A)
Location

Chromosome 4:122277280 (forward strand) | View in location tab

Most severe consequence
 
Intron variant
Evidence status

This variant has 4 HGVS names - click the plus to show

4:g.122277280A>G
ENST00000264501.8:c.8591+1258A>G
ENST00000388738.7:c.8591+1258A>G
ENST00000419325.5:c.2463+1258A>G

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2604 sample genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variant displays