Original source

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

Alleles
C/T | Ancestral: T | Ambiguity code: Y | MAF: 0.48 (T)
Location

Chromosome 2:60493111 (forward strand) | View in location tab

Co-located
Most severe consequence
 
Intron variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

2:g.60493111C>T
ENST00000356842.8:c.386-24278G>A
ENST00000492272.5:n.228-24278G>A
ENST00000631857.1:c.*100+15495G>A
ENST00000335712.10:c.386-24278G>A
ENST00000489516.6:c.230-24278G>A
ENST00000358510.5:c.386-30687G>A
ENST00000477659.1:n.69-24278G>A
ENST00000359629.9:c.386-24278G>A

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 9 transcripts, has 3973 sample genotypes, is associated with 3 phenotypes and is mentioned in 28 citations.

Variant displays