Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.01 (T)
Location

Chromosome 6:161360193 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM035856

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 3835 sample genotypes, is associated with 1 phenotype and is mentioned in 6 citations.

Variant displays