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rs397514679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514679(C;T)
Make rs397514679(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47574321
GeneSYN1
is asnp
is mentioned by
dbSNPrs397514679
ebirs397514679
HLIrs397514679
Exacrs397514679
Varsomers397514679
Maprs397514679
PheGenIrs397514679
hapmaprs397514679
1000 genomesrs397514679
hgdprs397514679
ensemblrs397514679
gopubmedrs397514679
geneviewrs397514679
scholarrs397514679
googlers397514679
pharmgkbrs397514679
gwascentralrs397514679
openSNPrs397514679
23andMers397514679
23andMe allrs397514679
SNP Nexus

SNPshotrs397514679
SNPdbers397514679
MSV3drs397514679
GWAS Ctlgrs397514679
Max Magnitude0
ClinVar
Risk rs397514679(T;T)
Alt rs397514679(T;T)
Reference rs397514679(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene SYN1
CLNDBN Epilepsy, X-linked, with variable learning disabilities and behavior disorders
Reversed 1
HGVS NC_000023.10:g.47433720G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034815.4,