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rs80358229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358229(A;A)
Make rs80358229(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position46725546
GeneSLC2A10
is asnp
is mentioned by
dbSNPrs80358229
ebirs80358229
HLIrs80358229
Exacrs80358229
Varsomers80358229
Maprs80358229
PheGenIrs80358229
hapmaprs80358229
1000 genomesrs80358229
hgdprs80358229
ensemblrs80358229
gopubmedrs80358229
geneviewrs80358229
scholarrs80358229
googlers80358229
pharmgkbrs80358229
gwascentralrs80358229
openSNPrs80358229
23andMers80358229
23andMe allrs80358229
SNP Nexus

SNPshotrs80358229
SNPdbers80358229
MSV3drs80358229
GWAS Ctlgrs80358229
Max Magnitude0
OMIM606145
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358229(A;A)
Alt rs80358229(A;A)
Reference rs80358229(G;G)
Significance Pathogenic
Disease Arterial tortuosity syndrome
Variation info
Gene SLC2A10
CLNDBN Arterial tortuosity syndrome
Reversed 0
HGVS NC_000020.10:g.45354185G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004847.3,