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: < 0.01 (T)
Location

Chromosome 6:162262692 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM080477, CM012632

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 32 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 18 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays