Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: < 0.01 (C)
Location

Chromosome 16:89920138 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950790

Most severe consequence
 
Missense variant
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: Illumina_ExomeChip

About this variant

This variant overlaps 42 transcripts, has 2506 sample genotypes, is associated with 2 phenotypes and is mentioned in 14 citations.

Variant displays