Original source

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

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

Chromosome 16:47650919 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM971174, CM031327

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2534 sample genotypes and is associated with 2 phenotypes.

Variant displays