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rs398122865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGC;AGC) 0 common in clinvar
(CAG;CAG) 0 common in clinvar
Make rs398122865(-;-)
Make rs398122865(-;AGC)
ReferenceGRCh38 38.1/141
Chromosome9
Position128627414
GeneSPTAN1
is asnp
is mentioned by
dbSNPrs398122865
ebirs398122865
HLIrs398122865
Exacrs398122865
Varsomers398122865
Maprs398122865
PheGenIrs398122865
hapmaprs398122865
1000 genomesrs398122865
hgdprs398122865
ensemblrs398122865
gopubmedrs398122865
geneviewrs398122865
scholarrs398122865
googlers398122865
pharmgkbrs398122865
gwascentralrs398122865
openSNPrs398122865
23andMers398122865
23andMe allrs398122865
SNP Nexus

SNPshotrs398122865
SNPdbers398122865
MSV3drs398122865
GWAS Ctlgrs398122865
Max Magnitude0
ClinVar
Risk rs398122865(;)
Alt rs398122865(;)
Reference rs398122865(CAG;CAG)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 5
Variation info
Gene SPTAN1
CLNDBN Early infantile epileptic encephalopathy 5
Reversed 0
HGVS NC_000009.11:g.131389693_131389695delAGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000029155.24,