Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)
Location

Chromosome 1:183563302 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992363

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 3193 sample genotypes, is associated with 2 phenotypes and is mentioned in 4 citations.

Variant displays