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rs121918361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918361(C;C)
Make rs121918361(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position63724557
GeneARHGEF9
is asnp
is mentioned by
dbSNPrs121918361
ebirs121918361
HLIrs121918361
Exacrs121918361
Varsomers121918361
Maprs121918361
PheGenIrs121918361
hapmaprs121918361
1000 genomesrs121918361
hgdprs121918361
ensemblrs121918361
gopubmedrs121918361
geneviewrs121918361
scholarrs121918361
googlers121918361
pharmgkbrs121918361
gwascentralrs121918361
openSNPrs121918361
23andMers121918361
23andMe allrs121918361
SNP Nexus

SNPshotrs121918361
SNPdbers121918361
MSV3drs121918361
GWAS Ctlgrs121918361
Max Magnitude0
OMIM300429
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918361(C;C)
Alt rs121918361(C;C)
Reference rs121918361(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 8
Variation info
Gene ARHGEF9
CLNDBN Early infantile epileptic encephalopathy 8
Reversed 1
HGVS NC_000023.10:g.62944437C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011796.6,