Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 10:71712737 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM082525

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_046411

This variant has 16 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays