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

rs77358650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs77358650(A;A)
Make rs77358650(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position128580928
GeneSPTAN1
is asnp
is mentioned by
dbSNPrs77358650
dbSNP (classic)rs77358650
ClinGenrs77358650
ebirs77358650
HLIrs77358650
Exacrs77358650
Gnomadrs77358650
Varsomers77358650
LitVarrs77358650
Maprs77358650
PheGenIrs77358650
Biobankrs77358650
1000 genomesrs77358650
hgdprs77358650
ensemblrs77358650
geneviewrs77358650
scholarrs77358650
googlers77358650
pharmgkbrs77358650
gwascentralrs77358650
openSNPrs77358650
23andMers77358650
SNPshotrs77358650
SNPdbers77358650
MSV3drs77358650
GWAS Ctlgrs77358650
Max Magnitude0
ClinVar
Risk rs77358650(A;A)
Alt rs77358650(A;A)
Reference Rs77358650(G;G)
Significance Probable-Pathogenic
Disease not specified Early infantile epileptic encephalopathy 5 Early Infantile Epileptic Encephalopathy Abnormality of brain morphology Early infantile epileptic encephalopathy
Variation info
Gene SPTAN1
CLNDBN not specified Early infantile epileptic encephalopathy 5 Early Infantile Epileptic Encephalopathy, Autosomal Dominant Abnormality of brain morphology Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.131343207G>A
CLNSRC
CLNACC RCV000128230.3, RCV000147605.1, RCV000274173.1, RCV000454129.1, RCV000458268.1,