Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

This variant has 3 HGVS names - click the plus to show

This variant has assays on 4 chips - click the plus to show

About this variant

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

Variant displays