Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K|MAF: 0.26 (T)
Location

Chromosome 2:191099907 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

Clinical significance

Synonyms

Archive dbSNP rs52795984, rs57433953

HGVS names

This variant has 6 HGVS names - Hide

2:g.191099907T>G
ENST00000358470.8:c.274-23582A>C
ENST00000392320.6:c.274-23582A>C
ENST00000495849.5:n.342-23582A>C
ENST00000495326.1:n.344-23582A>C
ENST00000413064.5:c.193-23582A>C

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3954 sample genotypes, is associated with 15 phenotypes and is mentioned in 207 citations.

Variant displays