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 16:50699827 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM020642 ; dbSNP rs776176047 (G/-)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Infevers 245

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays