Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: 0.18 (A)
Location

Chromosome 17:48728228 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 16 transcripts, has 3729 sample genotypes and is associated with 1 phenotype.

Variant displays