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rs121908173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908173(C;T)
Make rs121908173(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position46725430
GeneSLC2A10
is asnp
is mentioned by
dbSNPrs121908173
dbSNP (classic)rs121908173
ClinGenrs121908173
ebirs121908173
HLIrs121908173
Exacrs121908173
Gnomadrs121908173
Varsomers121908173
LitVarrs121908173
Maprs121908173
PheGenIrs121908173
Biobankrs121908173
1000 genomesrs121908173
hgdprs121908173
ensemblrs121908173
geneviewrs121908173
scholarrs121908173
googlers121908173
pharmgkbrs121908173
gwascentralrs121908173
openSNPrs121908173
23andMers121908173
SNPshotrs121908173
SNPdbers121908173
MSV3drs121908173
GWAS Ctlgrs121908173
Max Magnitude0
OMIM606145
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908173(T;T)
Alt rs121908173(T;T)
Reference Rs121908173(C;C)
Significance Pathogenic
Disease Arterial tortuosity syndrome
Variation info
Gene SLC2A10
CLNDBN Arterial tortuosity syndrome
Reversed 0
HGVS NC_000020.10:g.45354069C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004852.2,