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 (A)
Location

Chromosome 8:89971232 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM044022

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 12 transcripts, has 2506 sample genotypes, is associated with 5 phenotypes and is mentioned in 1 citation.

Variant displays