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rs1057518953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518953(A;A)
Make rs1057518953(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position42930742
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs1057518953
dbSNP (old)rs1057518953
ClinGenrs1057518953
ebirs1057518953
HLIrs1057518953
Exacrs1057518953
Gnomadrs1057518953
Varsomers1057518953
LitVarrs1057518953
Maprs1057518953
PheGenIrs1057518953
Biobankrs1057518953
1000 genomesrs1057518953
hgdprs1057518953
ensemblrs1057518953
gopubmedrs1057518953
geneviewrs1057518953
scholarrs1057518953
googlers1057518953
pharmgkbrs1057518953
gwascentralrs1057518953
openSNPrs1057518953
23andMers1057518953
23andMe allrs1057518953
SNPshotrs1057518953
SNPdbers1057518953
MSV3drs1057518953
GWAS Ctlgrs1057518953
Max Magnitude0
ClinVar
Risk rs1057518953(A;A)
Alt rs1057518953(A;A)
Reference Rs1057518953(G;G)
Significance Probable-Pathogenic
Disease Paroxysmal dystonia GLUT1 deficiency syndrome 1
Variation info
Gene SLC2A1
CLNDBN Paroxysmal dystonia GLUT1 deficiency syndrome 1, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.43396413C>T
CLNSRC
CLNACC RCV000415325.1, RCV000458446.1,