Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)

Chromosome 13:51939199 (forward strand) | View in location tab

Most severe consequence
Splice region variant
Evidence status

Clinical significance


LSDB ATP7B_3557-6C_T_021111

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays