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rs80358230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358230(C;G)
Make rs80358230(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position46725279
GeneSLC2A10
is asnp
is mentioned by
dbSNPrs80358230
ebirs80358230
HLIrs80358230
Exacrs80358230
Varsomers80358230
Maprs80358230
PheGenIrs80358230
hapmaprs80358230
1000 genomesrs80358230
hgdprs80358230
ensemblrs80358230
gopubmedrs80358230
geneviewrs80358230
scholarrs80358230
googlers80358230
pharmgkbrs80358230
gwascentralrs80358230
openSNPrs80358230
23andMers80358230
23andMe allrs80358230
SNP Nexus

SNPshotrs80358230
SNPdbers80358230
MSV3drs80358230
GWAS Ctlgrs80358230
Max Magnitude0
OMIM606145
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80358230(G;G)
Alt rs80358230(G;G)
Reference rs80358230(C;C)
Significance Pathogenic
Disease Arterial tortuosity syndrome
Variation info
Gene SLC2A10
CLNDBN Arterial tortuosity syndrome
Reversed 0
HGVS NC_000020.10:g.45353918C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004850.3,