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rs1057518985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518985(C;T)
Make rs1057518985(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127673233
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057518985
dbSNP (classic)rs1057518985
ClinGenrs1057518985
ebirs1057518985
HLIrs1057518985
Exacrs1057518985
Gnomadrs1057518985
Varsomers1057518985
LitVarrs1057518985
Maprs1057518985
PheGenIrs1057518985
Biobankrs1057518985
1000 genomesrs1057518985
hgdprs1057518985
ensemblrs1057518985
geneviewrs1057518985
scholarrs1057518985
googlers1057518985
pharmgkbrs1057518985
gwascentralrs1057518985
openSNPrs1057518985
23andMers1057518985
23andMe allrs1057518985
SNPshotrs1057518985
SNPdbers1057518985
MSV3drs1057518985
GWAS Ctlgrs1057518985
Max Magnitude0
ClinVar
Risk rs1057518985(T;T)
Alt rs1057518985(T;T)
Reference Rs1057518985(C;C)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130435512C>T
CLNSRC
CLNACC RCV000415156.1,