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 8:31120294 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043621

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, has 2506 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays