Original source

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

Alleles
T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.18 (T)
Location

Chromosome 19:38434174 (forward strand) | View in location tab

Co-located

with PhenCode RYR1:c.45+300T>C (T/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 4 HGVS names - click the plus to show

This variation has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, has 2294 individual genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variation displays