Original source

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

Alleles
T/G | Ancestral: G | Ambiguity code: K | MAF: 0.41 (T)
Location

Chromosome 2:233757013 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR025220

Most severe consequence
 
Intron variant
Evidence status

Clinical significance

Synonyms

Archive dbSNP rs57409706

This variant has 17 HGVS names - click the plus to show

2:g.233757013T>G
ENST00000373445.1:c.856-10021T>G
ENST00000373409.7:c.868-10021T>G
ENST00000305139.10:c.862-10021T>G
ENST00000482026.5:c.868-10021T>G
ENST00000373424.5:c.61-10021T>G
ENST00000446481.6:c.61-10021T>G
ENST00000373426.3:c.856-10021T>G
ENST00000450233.1:c.868-10021T>G
ENST00000609767.2:c.868-10021T>G
ENST00000373414.3:c.868-10021T>G
ENST00000406651.1:c.61-10021T>G
ENST00000344644.9:c.856-10021T>G
ENST00000373450.4:c.856-10021T>G
ENST00000354728.4:c.856-10021T>G
ENST00000484784.2:c.*238-10021T>G
LRG_733:g.1741T>G

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 24 transcripts, 1 regulatory feature, has 3693 sample genotypes, is associated with 2 phenotypes and is mentioned in 17 citations.

Variant displays