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rs796053248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796053248(C;T)
Make rs796053248(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position42929885
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs796053248
dbSNP (classic)rs796053248
ClinGenrs796053248
ebirs796053248
HLIrs796053248
Exacrs796053248
Gnomadrs796053248
Varsomers796053248
LitVarrs796053248
Maprs796053248
PheGenIrs796053248
Biobankrs796053248
1000 genomesrs796053248
hgdprs796053248
ensemblrs796053248
geneviewrs796053248
scholarrs796053248
googlers796053248
pharmgkbrs796053248
gwascentralrs796053248
openSNPrs796053248
23andMers796053248
SNPshotrs796053248
SNPdbers796053248
MSV3drs796053248
GWAS Ctlgrs796053248
Max Magnitude0
ClinVar
Risk rs796053248(T;T)
Alt rs796053248(T;T)
Reference Rs796053248(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene SLC2A1
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.43395556G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000189355.2,