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 3:46858378 (forward strand)|View in location tab

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms
HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays