Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.47 (T)

Chromosome 2:203869764 (forward strand) | View in location tab


with HGMD-PUBLIC CR101815

Most severe consequence
Evidence status


Archive dbSNP rs440304

This variation has 5 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_HumanOmni5, Illumina_Human1M-duo

About this variant

This variant overlaps 5 transcripts, has 2359 individual genotypes, is associated with 1 phenotype and is mentioned in 13 citations.

Variation displays