Original source

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

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

Chromosome 6:161386865 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 15 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays