Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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 rs57433953, rs52795984

This variant has 6 HGVS names - click the plus to show

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

This variant has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 3954 sample genotypes, is associated with 15 phenotypes and is mentioned in 201 citations.

Variant displays