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rs587784438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGG;AGG) 0 common in clinvar
Make rs587784438(-;-)
Make rs587784438(-;GAG)
Make rs587784438(GAG;GAG)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position128627428
GeneSPTAN1
is asnp
is mentioned by
dbSNPrs587784438
dbSNP (classic)rs587784438
ClinGenrs587784438
ebirs587784438
HLIrs587784438
Exacrs587784438
Gnomadrs587784438
Varsomers587784438
LitVarrs587784438
Maprs587784438
PheGenIrs587784438
Biobankrs587784438
1000 genomesrs587784438
hgdprs587784438
ensemblrs587784438
geneviewrs587784438
scholarrs587784438
googlers587784438
pharmgkbrs587784438
gwascentralrs587784438
openSNPrs587784438
23andMers587784438
SNPshotrs587784438
SNPdbers587784438
MSV3drs587784438
GWAS Ctlgrs587784438
Max Magnitude0
ClinVar
Risk rs587784438(-;-)
Alt rs587784438(-;-)
Reference Rs587784438(AGG;AGG)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 5 not provided
Variation info
Gene SPTAN1
CLNDBN Early infantile epileptic encephalopathy 5 not provided
Reversed 0
HGVS NC_000009.11:g.131389707_131389709delGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000147650.3, RCV000189543.2,