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rs1057524916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057524916(-;T)
Make rs1057524916(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position244856557
GeneHNRNPU
is asnp
is mentioned by
dbSNPrs1057524916
dbSNP (classic)rs1057524916
ClinGenrs1057524916
ebirs1057524916
HLIrs1057524916
Exacrs1057524916
Gnomadrs1057524916
Varsomers1057524916
LitVarrs1057524916
Maprs1057524916
PheGenIrs1057524916
Biobankrs1057524916
1000 genomesrs1057524916
hgdprs1057524916
ensemblrs1057524916
geneviewrs1057524916
scholarrs1057524916
googlers1057524916
pharmgkbrs1057524916
gwascentralrs1057524916
openSNPrs1057524916
23andMers1057524916
23andMe allrs1057524916
SNPshotrs1057524916
SNPdbers1057524916
MSV3drs1057524916
GWAS Ctlgrs1057524916
Max Magnitude0
ClinVar
Risk rs1057524916(T;T)
Alt rs1057524916(T;T)
Reference Rs1057524916(-;-)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene HNRNPU
CLNDBN Epileptic encephalopathy, early infantile, 54
Reversed 1
HGVS NC_000001.10:g.245019860dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000445555.1,