Original source

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

G/C | Ancestral: C | Ambiguity code: S | MAF: 0.23 (C)

Chromosome 11:66238852 (forward strand) | View in location tab

Most severe consequence
Splice region variant
Evidence status

Clinical significance


ClinVar SCV000152161

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 8 transcripts, has 2777 sample genotypes and is associated with 1 phenotype.

Variant displays