Original source

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

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

Chromosome 16:50699481 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS061257

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

Infevers 194

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays