Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.06 (A)
Location

Chromosome 1:237456734 (forward strand)|View in location tab

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

LSDB RYR2_1611G_A_011211

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 2 transcripts, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays