Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
T/A/C | Ancestral: T | Ambiguity code: H | MAF: < 0.01 (C)
Location

Chromosome 16:3243403 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981245, CM055415

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 42 HGVS names - click the plus to show

Genotyping chips

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

About this variant

This variant overlaps 32 transcripts, has 1092 individual genotypes, is associated with 5 phenotypes and is mentioned in 1 citation.

Variation displays