Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.03 (A)
Location

Chromosome 1:113834946 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041826

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

This variant has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 3674 sample genotypes, is associated with 25 phenotypes and is mentioned in 368 citations.

Variant displays