Original source

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

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

Chromosome 1:17027802 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM056695

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

This variant has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2528 sample genotypes, is associated with 6 phenotypes and is mentioned in 6 citations.

Variant displays