Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

Chromosome 1:237648589 (forward strand) | View in location tab

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


LSDB RYR2_7488C_T_090610

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 2 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays