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rs1385129

From SNPedia

Orientationplus
Stabilizedplus
Make rs1385129(A;A)
Make rs1385129(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42943295
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs1385129
dbSNP (classic)rs1385129
ClinGenrs1385129
ebirs1385129
HLIrs1385129
Exacrs1385129
Gnomadrs1385129
Varsomers1385129
LitVarrs1385129
Maprs1385129
PheGenIrs1385129
Biobankrs1385129
1000 genomesrs1385129
hgdprs1385129
ensemblrs1385129
geneviewrs1385129
scholarrs1385129
googlers1385129
pharmgkbrs1385129
gwascentralrs1385129
openSNPrs1385129
23andMers1385129
SNPshotrs1385129
SNPdbers1385129
MSV3drs1385129
GWAS Ctlgrs1385129
GMAF0.2397
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 22707195] Relationship between five GLUT1 gene single nucleotide polymorphisms and diabetic nephropathy: a systematic review and meta-analysis


[PMID 18212354OA-icon.png] Genes in glucose metabolism and association with spina bifida.


ClinVar
Risk rs1385129(A;A)
Alt rs1385129(A;A)
Reference Rs1385129(G;G)
Significance Non-pathogenic
Disease not specified Glucose transporter type 1 deficiency syndrome Dystonia
Variation info
Gene SLC2A1
CLNDBN not specified Glucose transporter type 1 deficiency syndrome Dystonia
Reversed 0
HGVS NC_000001.10:g.43408966G>A
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000081435.7, RCV000311968.1, RCV000366638.1,