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rs869312702

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312702(A;A)
Make rs869312702(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position128203609
GeneCIZ1, DNM1
is asnp
is mentioned by
dbSNPrs869312702
ebirs869312702
HLIrs869312702
Exacrs869312702
Varsomers869312702
Maprs869312702
PheGenIrs869312702
hapmaprs869312702
1000 genomesrs869312702
hgdprs869312702
ensemblrs869312702
gopubmedrs869312702
geneviewrs869312702
scholarrs869312702
googlers869312702
pharmgkbrs869312702
gwascentralrs869312702
openSNPrs869312702
23andMers869312702
23andMe allrs869312702
SNP Nexus

SNPshotrs869312702
SNPdbers869312702
MSV3drs869312702
GWAS Ctlgrs869312702
Max Magnitude0
ClinVar
Risk rs869312702(A;A)
Alt rs869312702(A;A)
Reference rs869312702(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CIZ1 DNM1
CLNDBN Epileptic encephalopathy, early infantile, 31
Reversed 0
HGVS NC_000009.11:g.130965888G>A
CLNSRC
CLNACC RCV000209889.1,