Original source

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

Alleles
C/G/T|Ancestral: G|Ambiguity code: B|MAF: 0.17 (G)
Location

Chromosome 6:161386823 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM032983

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 28 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 14 transcripts, has 3963 sample genotypes, is associated with 2 phenotypes and is mentioned in 9 citations.

Variant displays