Original source

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

Alleles
G/T|Ancestral: T|Ambiguity code: K|MAF: 0.11 (A)
Location

Chromosome 1:145926947 (forward strand)|View in location tab

Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 32 transcripts, 1 regulatory feature, has 2509 sample genotypes and is associated with 1 phenotype.

Variant displays