Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 1:237492989 (forward strand) | View in location tab

Co-located

with COSMIC COSM679949 (C/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB RYR2_1863C_T_111110

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

Genotyping chips

This variation has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 2 transcripts, has 1421 individual genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays