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rs1057519273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519273(C;G)
Make rs1057519273(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position37765736
GenePROSC
is asnp
is mentioned by
dbSNPrs1057519273
dbSNP (classic)rs1057519273
ClinGenrs1057519273
ebirs1057519273
HLIrs1057519273
Exacrs1057519273
Gnomadrs1057519273
Varsomers1057519273
LitVarrs1057519273
Maprs1057519273
PheGenIrs1057519273
Biobankrs1057519273
1000 genomesrs1057519273
hgdprs1057519273
ensemblrs1057519273
geneviewrs1057519273
scholarrs1057519273
googlers1057519273
pharmgkbrs1057519273
gwascentralrs1057519273
openSNPrs1057519273
23andMers1057519273
SNPshotrs1057519273
SNPdbers1057519273
MSV3drs1057519273
GWAS Ctlgrs1057519273
Max Magnitude0
ClinVar
Risk rs1057519273(G;G)
Alt rs1057519273(G;G)
Reference Rs1057519273(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene PROSC
CLNDBN Epilepsy, early-onset, vitamin b6-dependent
Reversed 0
HGVS NC_000008.10:g.37623254C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000415554.1,