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rs137852560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852560(A;A)
Make rs137852560(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47576222
GeneSYN1
is asnp
is mentioned by
dbSNPrs137852560
ebirs137852560
HLIrs137852560
Exacrs137852560
Varsomers137852560
Maprs137852560
PheGenIrs137852560
hapmaprs137852560
1000 genomesrs137852560
hgdprs137852560
ensemblrs137852560
gopubmedrs137852560
geneviewrs137852560
scholarrs137852560
googlers137852560
pharmgkbrs137852560
gwascentralrs137852560
openSNPrs137852560
23andMers137852560
23andMe allrs137852560
SNP Nexus

SNPshotrs137852560
SNPdbers137852560
MSV3drs137852560
GWAS Ctlgrs137852560
Max Magnitude0
OMIM313440
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852560(A;A)
Alt rs137852560(A;A)
Reference rs137852560(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.47435621C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010542.2,