Original source

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

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

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

Most severe consequence
Splice donor variant
Evidence status

Clinical significance

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 31 transcripts, 1 regulatory feature, has 2509 sample genotypes and is associated with 1 phenotype.

Variant displays