Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: 0.15 (A)
Location

Chromosome 6:6318562 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950376

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature, has 3868 sample genotypes, is associated with 4 phenotypes and is mentioned in 17 citations.

Variant displays