Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 1:110064595 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM092885

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 4 HGVS names - Show

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays