Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784440

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587784440(-;-)
Make rs587784440(-;GGACCAGCT)
Make rs587784440(GGACCAGCT;GGACCAGCT)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position128632278
GeneSPTAN1
is asnp
is mentioned by
dbSNPrs587784440
ebirs587784440
HLIrs587784440
Exacrs587784440
Varsomers587784440
Maprs587784440
PheGenIrs587784440
hapmaprs587784440
1000 genomesrs587784440
hgdprs587784440
ensemblrs587784440
gopubmedrs587784440
geneviewrs587784440
scholarrs587784440
googlers587784440
pharmgkbrs587784440
gwascentralrs587784440
openSNPrs587784440
23andMers587784440
23andMe allrs587784440
SNP Nexus

SNPshotrs587784440
SNPdbers587784440
MSV3drs587784440
GWAS Ctlgrs587784440
Max Magnitude0
ClinVar
Risk rs587784440(GGACCAGCT;GGACCAGCT)
Alt rs587784440(GGACCAGCT;GGACCAGCT)
Reference rs587784440(;)
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,