Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.21 (A)
Location

Chromosome 2:60493816 (forward strand) | View in location tab

Co-located
Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs52835308, rs118120356

This variation has 8 HGVS names - click the plus to show

2:g.60493816A>G
ENST00000356842.7:c.386-24983T>C
ENST00000492272.4:n.228-24983T>C
ENST00000335712.9:c.386-24983T>C
ENST00000477659.1:n.69-24983T>C
ENST00000358510.4:c.386-31392T>C
ENST00000359629.8:c.386-24983T>C
ENST00000489516.5:n.378-24983T>C

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 8 transcripts, has 1423 individual genotypes, is associated with 1 phenotype and is mentioned in 23 citations.

Variation displays