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rs796053340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGACCAGCT;GGACCAGCT) 0 common in clinvar
Make rs796053340(-;-)
Make rs796053340(-;ACCAGCTGG)
Make rs796053340(ACCAGCTGG;ACCAGCTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position128632272
GeneSPTAN1
is asnp
is mentioned by
dbSNPrs796053340
dbSNP (classic)rs796053340
ClinGenrs796053340
ebirs796053340
HLIrs796053340
Exacrs796053340
Gnomadrs796053340
Varsomers796053340
LitVarrs796053340
Maprs796053340
PheGenIrs796053340
Biobankrs796053340
1000 genomesrs796053340
hgdprs796053340
ensemblrs796053340
geneviewrs796053340
scholarrs796053340
googlers796053340
pharmgkbrs796053340
gwascentralrs796053340
openSNPrs796053340
23andMers796053340
SNPshotrs796053340
SNPdbers796053340
MSV3drs796053340
GWAS Ctlgrs796053340
Max Magnitude0
ClinVar
Risk rs796053340(-;-)
Alt rs796053340(-;-)
Reference Rs796053340(GGACCAGCT;GGACCAGCT)
Significance Probable-Pathogenic
Disease not provided Focal epilepsy
Variation info
Gene SPTAN1
CLNDBN not provided Focal epilepsy
Reversed 0
HGVS NC_000009.11:g.131394551_131394559delACCAGCTGG
CLNSRC
CLNACC RCV000189555.2, RCV000416957.1,