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rs786205152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205152(A;A)
Make rs786205152(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position10292918
GeneSNAP25
is asnp
is mentioned by
dbSNPrs786205152
dbSNP (classic)rs786205152
ClinGenrs786205152
ebirs786205152
HLIrs786205152
Exacrs786205152
Gnomadrs786205152
Varsomers786205152
LitVarrs786205152
Maprs786205152
PheGenIrs786205152
Biobankrs786205152
1000 genomesrs786205152
hgdprs786205152
ensemblrs786205152
geneviewrs786205152
scholarrs786205152
googlers786205152
pharmgkbrs786205152
gwascentralrs786205152
openSNPrs786205152
23andMers786205152
SNPshotrs786205152
SNPdbers786205152
MSV3drs786205152
GWAS Ctlgrs786205152
Max Magnitude0
ClinVar
Risk rs786205152(A;A)
Alt rs786205152(A;A)
Reference Rs786205152(T;T)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene SNAP25
CLNDBN Myasthenic syndrome, congenital, 18
Reversed 0
HGVS NC_000020.10:g.10273566T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170319.3,