Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M|MAF: < 0.01 (A)
Location

Chromosome 12:13562998 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NC_000012.11:g.13715932C>A

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

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

Variant displays