Original source

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

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

Chromosome 6:161785820 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1722444, COSM1722445 ; HGMD-PUBLIC CM991007

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, has 2505 sample genotypes, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays