Original source

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

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

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


with HGMD-PUBLIC CM082525

Most severe consequence
Evidence status

Clinical significance


Uniprot VAR_046411

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

Genotyping chips

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

About this variant

This variant overlaps 10 transcripts, has 2506 individual genotypes and is associated with 1 phenotype.

Variation displays