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rs397514680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514680(A;A)
Make rs397514680(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47574336
GeneSYN1
is asnp
is mentioned by
dbSNPrs397514680
dbSNP (classic)rs397514680
ClinGenrs397514680
ebirs397514680
HLIrs397514680
Exacrs397514680
Gnomadrs397514680
Varsomers397514680
LitVarrs397514680
Maprs397514680
PheGenIrs397514680
Biobankrs397514680
1000 genomesrs397514680
hgdprs397514680
ensemblrs397514680
geneviewrs397514680
scholarrs397514680
googlers397514680
pharmgkbrs397514680
gwascentralrs397514680
openSNPrs397514680
23andMers397514680
SNPshotrs397514680
SNPdbers397514680
MSV3drs397514680
GWAS Ctlgrs397514680
Max Magnitude0
ClinVar
Risk rs397514680(A;A) rs397514680(C;C)
Alt rs397514680(A;A) rs397514680(C;C)
Reference Rs397514680(G;G)
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.47433735C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034816.6,