Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 1:226891773 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

PhenCode ADM_157

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 1 phenotype.

Variant displays