Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.01 (A)
Location

Chromosome 18:31598655 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CD972505, CM900219

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

This variant has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes, is associated with 5 phenotypes and is mentioned in 6 citations.

Variant displays