Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

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

Chromosome 1:17005517 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_058452

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts and has 2505 sample genotypes.

Variant displays