Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 14:23425316 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM066923, CM950825 ; PhenCode FHC0171 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, HumanCoreExome-12

About this variant

This variant overlaps 2 transcripts, has 515 sample genotypes and is associated with 4 phenotypes.

Variant displays