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rs1057519452

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519452(G;T)
Make rs1057519452(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position49115756
GeneUSP19
is asnp
is mentioned by
dbSNPrs1057519452
dbSNP (old)rs1057519452
ClinGenrs1057519452
ebirs1057519452
HLIrs1057519452
Exacrs1057519452
Gnomadrs1057519452
Varsomers1057519452
Maprs1057519452
PheGenIrs1057519452
Biobankrs1057519452
1000 genomesrs1057519452
hgdprs1057519452
ensemblrs1057519452
gopubmedrs1057519452
geneviewrs1057519452
scholarrs1057519452
googlers1057519452
pharmgkbrs1057519452
gwascentralrs1057519452
openSNPrs1057519452
23andMers1057519452
23andMe allrs1057519452
SNPshotrs1057519452
SNPdbers1057519452
MSV3drs1057519452
GWAS Ctlgrs1057519452
Max Magnitude0
ClinVar
Risk rs1057519452(T;T)
Alt rs1057519452(T;T)
Reference Rs1057519452(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene USP19
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000003.11:g.49153189C>A
CLNSRC
CLNACC RCV000416476.1,