Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

G/T | Ancestral: G | Ambiguity code: K

Chromosome 9:69064942 (forward strand) | View in location tab


with HGMD-PUBLIC CM970534

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 14156, FRDA_25, 2010_April_001_026_FXN_606829_0005

This variant has 11 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays