Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|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 variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 2 transcripts, has 2506 sample genotypes, is associated with 6 phenotypes and is mentioned in 1 citation.

Variant displays