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rs80359816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80359816(G;T)
Make rs80359816(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930765
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359816
ebirs80359816
HLIrs80359816
Exacrs80359816
Varsomers80359816
Maprs80359816
PheGenIrs80359816
hapmaprs80359816
1000 genomesrs80359816
hgdprs80359816
ensemblrs80359816
gopubmedrs80359816
geneviewrs80359816
scholarrs80359816
googlers80359816
pharmgkbrs80359816
gwascentralrs80359816
openSNPrs80359816
23andMers80359816
23andMe allrs80359816
SNP Nexus

SNPshotrs80359816
SNPdbers80359816
MSV3drs80359816
GWAS Ctlgrs80359816
Max Magnitude0
OMIM138140
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80359816(A,T;A,T)
Alt rs80359816(A,T;A,T)
Reference rs80359816(G;G)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1 Glucose transporter type 1 deficiency syndrome not provided Epilepsy
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1, autosomal recessive Glucose transporter type 1 deficiency syndrome not provided Epilepsy, idiopathic generalized, susceptibility to, 12
Reversed 1
HGVS NC_000001.10:g.43396436C>A; NC_000001.10:g.43396436C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000017489.26, RCV000017491.29, RCV000081432.3, RCV000178277.1,


[PMID 10980529] Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.


[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.


[PMID 11603379] Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.