Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 17:15231047 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930595 ; PhenCode IPNMDB_854 (G/A), IPNMDB_28 (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 5 phenotypes.

Variant displays