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rs587784441

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587784441(-;-)
Make rs587784441(-;ACCAGCTGG)
Make rs587784441(ACCAGCTGG;ACCAGCTGG)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position128632280
GeneSPTAN1
is asnp
is mentioned by
dbSNPrs587784441
ebirs587784441
HLIrs587784441
Exacrs587784441
Varsomers587784441
Maprs587784441
PheGenIrs587784441
hapmaprs587784441
1000 genomesrs587784441
hgdprs587784441
ensemblrs587784441
gopubmedrs587784441
geneviewrs587784441
scholarrs587784441
googlers587784441
pharmgkbrs587784441
gwascentralrs587784441
openSNPrs587784441
23andMers587784441
23andMe allrs587784441
SNP Nexus

SNPshotrs587784441
SNPdbers587784441
MSV3drs587784441
GWAS Ctlgrs587784441
Max Magnitude0
ClinVar
Risk rs587784441(GGACCAGCT;GGACCAGCT)
Alt rs587784441(GGACCAGCT;GGACCAGCT)
Reference rs587784441(;)
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.131394551_131394559dupACCAGCTGG
CLNSRC
CLNACC RCV000147656.4, RCV000189556.1,