Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 17:80217061 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM971355

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 13064, 2010_April_001_198_SGSH_605270_0002

This variation has 19 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 29 transcripts and is associated with 2 phenotypes.

Variation displays