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rs587777781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777781(G;G)
Make rs587777781(G;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position202599351
GeneSYT2
is asnp
is mentioned by
dbSNPrs587777781
ebirs587777781
HLIrs587777781
Exacrs587777781
Varsomers587777781
Maprs587777781
PheGenIrs587777781
hapmaprs587777781
1000 genomesrs587777781
hgdprs587777781
ensemblrs587777781
gopubmedrs587777781
geneviewrs587777781
scholarrs587777781
googlers587777781
pharmgkbrs587777781
gwascentralrs587777781
openSNPrs587777781
23andMers587777781
23andMe allrs587777781
SNP Nexus

SNPshotrs587777781
SNPdbers587777781
MSV3drs587777781
GWAS Ctlgrs587777781
Max Magnitude0
ClinVar
Risk rs587777781(G;G)
Alt rs587777781(G;G)
Reference rs587777781(T;T)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene SYT2
CLNDBN Myasthenic syndrome, congenital, 7, presynaptic
Reversed 0
HGVS NC_000001.10:g.202568479T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144451.4,