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rs1057518821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518821(-;G)
Make rs1057518821(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position42930671
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs1057518821
dbSNP (old)rs1057518821
ClinGenrs1057518821
ebirs1057518821
HLIrs1057518821
Exacrs1057518821
Gnomadrs1057518821
Varsomers1057518821
Maprs1057518821
PheGenIrs1057518821
Biobankrs1057518821
1000 genomesrs1057518821
hgdprs1057518821
ensemblrs1057518821
gopubmedrs1057518821
geneviewrs1057518821
scholarrs1057518821
googlers1057518821
pharmgkbrs1057518821
gwascentralrs1057518821
openSNPrs1057518821
23andMers1057518821
23andMe allrs1057518821
SNPshotrs1057518821
SNPdbers1057518821
MSV3drs1057518821
GWAS Ctlgrs1057518821
Max Magnitude0
ClinVar
Risk rs1057518821(G;G)
Alt rs1057518821(G;G)
Reference Rs1057518821(-;-)
Significance Pathogenic
Disease Ataxia Global developmental delay Microcephaly Myoclonus Seizures
Variation info
Gene SLC2A1
CLNDBN Ataxia Global developmental delay Microcephaly Myoclonus Seizures
Reversed 1
HGVS NC_000001.10:g.43396343dupC
CLNSRC
CLNACC RCV000415305.1,