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rs397514460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514460(C;T)
Make rs397514460(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position63785142
GeneARHGEF9
is asnp
is mentioned by
dbSNPrs397514460
ebirs397514460
HLIrs397514460
Exacrs397514460
Varsomers397514460
Maprs397514460
PheGenIrs397514460
hapmaprs397514460
1000 genomesrs397514460
hgdprs397514460
ensemblrs397514460
gopubmedrs397514460
geneviewrs397514460
scholarrs397514460
googlers397514460
pharmgkbrs397514460
gwascentralrs397514460
openSNPrs397514460
23andMers397514460
23andMe allrs397514460
SNP Nexus

SNPshotrs397514460
SNPdbers397514460
MSV3drs397514460
GWAS Ctlgrs397514460
Max Magnitude0
ClinVar
Risk rs397514460(T;T)
Alt rs397514460(T;T)
Reference rs397514460(C;C)
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.63005022G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022860.2,