Original source

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

Alleles
G/A | Ancestral: A | Ambiguity code: R | MAF: 0.34 (G)
Location

Chromosome 13:33049027 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS043365

Most severe consequence
 
Intron variant
Evidence status

This variant has 3 HGVS names - click the plus to show

13:g.33049027G>A
ENST00000380099.3:c.820-4740G>A
ENST00000487852.1:n.828-4740G>A

This variant has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 2 transcripts, has 2776 sample genotypes and is mentioned in 2 citations.

Variant displays