Original source

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

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

Chromosome 1:17033078 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012800

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 6 citations.

Variant displays