Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 17:39530667 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_041971

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

Genotyping chips

This variant has assays on: Illumina_Cardio-Metabo_Chip, Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2506 sample genotypes and is associated with 1 phenotype.

Variant displays