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rs1057524915

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057524915(C;T)
Make rs1057524915(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position244863797
GeneHNRNPU
is asnp
is mentioned by
dbSNPrs1057524915
dbSNP (old)rs1057524915
ClinGenrs1057524915
ebirs1057524915
HLIrs1057524915
Exacrs1057524915
Gnomadrs1057524915
Varsomers1057524915
Maprs1057524915
PheGenIrs1057524915
Biobankrs1057524915
1000 genomesrs1057524915
hgdprs1057524915
ensemblrs1057524915
gopubmedrs1057524915
geneviewrs1057524915
scholarrs1057524915
googlers1057524915
pharmgkbrs1057524915
gwascentralrs1057524915
openSNPrs1057524915
23andMers1057524915
23andMe allrs1057524915
SNPshotrs1057524915
SNPdbers1057524915
MSV3drs1057524915
GWAS Ctlgrs1057524915
Max Magnitude0
ClinVar
Risk rs1057524915(T;T)
Alt rs1057524915(T;T)
Reference Rs1057524915(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HNRNPU
CLNDBN Epileptic encephalopathy, early infantile, 54
Reversed 1
HGVS NC_000001.10:g.245027099G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000445561.1,