Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 1:169468793 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002429

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_255_SLC19A2_603941_0009, 12269

HGVS names

This variant has 5 HGVS names - Show

About this variant

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

Variant displays