Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: 0.37 (G)
Location

Chromosome 2:233271764 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs57980349, rs61379225

This variation has 13 HGVS names - click the plus to show

2:g.233271764A>G
ENST00000373525.8:c.276-1202A>G
ENST00000392017.7:c.708-1202A>G
ENST00000444735.4:c.276-1202A>G
ENST00000474148.4:n.835-1202A>G
ENST00000392021.6:c.*589-1202A>G
ENST00000498620.4:n.272-1202A>G
ENST00000479942.4:n.854-1202A>G
ENST00000392020.7:c.708-1202A>G
ENST00000347464.8:c.276-1202A>G
ENST00000419681.4:c.276-1202A>G
ENST00000417017.4:c.456-1202A>G
ENST00000392018.1:c.708-1202A>G

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

About this variant

This variant overlaps 15 transcripts, has 2564 individual genotypes, is associated with 2 phenotypes and is mentioned in 16 citations.

Variation displays