Original source

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

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

Chromosome 10:71617355 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM050545

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_024030

HGVS names

This variant has 19 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 9 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays