Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.34 (A)
Location

Chromosome 16:88646828 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM983302

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 11 synonyms - Show

HGVS names

This variant has 17 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 11 transcripts, has 4097 sample genotypes, is associated with 2 phenotypes and is mentioned in 26 citations.

Variant displays