Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.44 (T)

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


with HGMD-PUBLIC CR101815

Most severe consequence
Intron variant
Evidence status


Archive dbSNP rs440304

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 5 transcripts, has 3759 sample genotypes, is associated with 1 phenotype and is mentioned in 14 citations.

Variant displays