Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 20:59321127 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960505

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1709, 2009_August_001_008_EDN3_131242_0002

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays