Original source

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

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

Chromosome 8:89955418 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB Broad13929705

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays