Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|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 variant
Most severe consequence
 
Intron variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

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
ENST00000359629.9:c.386-24278G>A
ENST00000477659.1:n.69-24278G>A
ENST00000489516.6:c.230-24278G>A
ENST00000358510.5:c.386-30687G>A

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 9 transcripts, has 3973 sample genotypes, is associated with 3 phenotypes and is mentioned in 29 citations.

Variant displays