Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 12:52302113 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_KRT86:c.197G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, has 2506 sample genotypes and is associated with 1 phenotype.

Variant displays