Original source

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

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

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


with HGMD-PUBLIC CR025220

Most severe consequence
Intron variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 17 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - 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 19 citations.

Variant displays