Original source

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

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

Chromosome 1:17027802 (forward strand)|View in location tab

Co-located variants

COSMIC COSM5019672 ; HGMD-PUBLIC CM056695

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2528 sample genotypes, is associated with 6 phenotypes and is mentioned in 7 citations.

Variant displays