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rs387907312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907312(C;T)
Make rs387907312(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929918
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs387907312
ebirs387907312
HLIrs387907312
Exacrs387907312
Varsomers387907312
Maprs387907312
PheGenIrs387907312
hapmaprs387907312
1000 genomesrs387907312
hgdprs387907312
ensemblrs387907312
gopubmedrs387907312
geneviewrs387907312
scholarrs387907312
googlers387907312
pharmgkbrs387907312
gwascentralrs387907312
openSNPrs387907312
23andMers387907312
23andMe allrs387907312
SNP Nexus

SNPshotrs387907312
SNPdbers387907312
MSV3drs387907312
GWAS Ctlgrs387907312
Max Magnitude0
ClinVar
Risk rs387907312(T;T)
Alt rs387907312(T;T)
Reference rs387907312(C;C)
Significance Pathogenic
Disease Dystonia 9
Variation info
Gene SLC2A1
CLNDBN Dystonia 9
Reversed 1
HGVS NC_000001.10:g.43395589G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030840.27,