Original source

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

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

Chromosome 12:6034812 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910395 ; PhenCode VWF_c.2561G>A (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 4 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, has 2506 individual genotypes and is associated with 5 phenotypes.

Variation displays