Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.50 (G)

Chromosome 13:51937470 (forward strand) | View in location tab

Most severe consequence
Splice region variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 7 transcripts, has 2598 sample genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays