Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.47 (A)
Location

Chromosome 4:6301627 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM000447

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3918 sample genotypes, is associated with 1 phenotype and is mentioned in 19 citations.

Variant displays