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rs1057524914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057524914(AT;GA)
Make rs1057524914(GA;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position244854456
GeneHNRNPU, SNORA100
is asnp
is mentioned by
dbSNPrs1057524914
dbSNP (old)rs1057524914
ClinGenrs1057524914
ebirs1057524914
HLIrs1057524914
Exacrs1057524914
Gnomadrs1057524914
Varsomers1057524914
LitVarrs1057524914
Maprs1057524914
PheGenIrs1057524914
Biobankrs1057524914
1000 genomesrs1057524914
hgdprs1057524914
ensemblrs1057524914
gopubmedrs1057524914
geneviewrs1057524914
scholarrs1057524914
googlers1057524914
pharmgkbrs1057524914
gwascentralrs1057524914
openSNPrs1057524914
23andMers1057524914
23andMe allrs1057524914
SNPshotrs1057524914
SNPdbers1057524914
MSV3drs1057524914
GWAS Ctlgrs1057524914
Max Magnitude0
ClinVar
Risk rs1057524914(GA;GA)
Alt rs1057524914(GA;GA)
Reference Rs1057524914(AT;AT)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SNORA100 HNRNPU
CLNDBN Epileptic encephalopathy, early infantile, 54
Reversed 1
HGVS NC_000001.10:g.245017758_245017759delATinsTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000445557.1,