Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.12 (T)
Location

Chromosome 6:162201165 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM992652

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 8 chips - Show

About this variant

This variant overlaps 7 transcripts, has 3955 sample genotypes, is associated with 1 phenotype and is mentioned in 7 citations.

Variant displays