Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: < 0.01 (A)
Location

Chromosome 11:6391937 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM023141

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 30 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 54 transcripts, has 2506 sample genotypes and is associated with 1 phenotype.

Variant displays