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rs794729221

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729221(C;T)
Make rs794729221(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position42929736
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs794729221
ebirs794729221
HLIrs794729221
Exacrs794729221
Varsomers794729221
Maprs794729221
PheGenIrs794729221
hapmaprs794729221
1000 genomesrs794729221
hgdprs794729221
ensemblrs794729221
gopubmedrs794729221
geneviewrs794729221
scholarrs794729221
googlers794729221
pharmgkbrs794729221
gwascentralrs794729221
openSNPrs794729221
23andMers794729221
23andMe allrs794729221
SNP Nexus

SNPshotrs794729221
SNPdbers794729221
MSV3drs794729221
GWAS Ctlgrs794729221
Max Magnitude0
ClinVar
Risk rs794729221(T;T)
Alt rs794729221(T;T)
Reference rs794729221(C;C)
Significance Pathogenic
Disease Glucose transporter type 1 deficiency syndrome not provided Intellectual disability
Variation info
Gene SLC2A1
CLNDBN Glucose transporter type 1 deficiency syndrome not provided Intellectual disability
Reversed 1
HGVS NC_000001.10:g.43395407G>A
CLNSRC
CLNACC RCV000184042.1, RCV000189395.1, RCV000224228.1,