Original source

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

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

Chromosome 2:127426180 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM880060

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12

About this variant

This variant overlaps 11 transcripts and is associated with 3 phenotypes.

Variation displays