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 16:3243310 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970914

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 16 transcripts, has 2543 individual genotypes, is associated with 3 phenotypes and is mentioned in 7 citations.

Variation displays