Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 1:11022418 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM081448

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 25 HGVS names - Show

About this variant

This variant overlaps 35 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays