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rs864309663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309663(-;-)
Make rs864309663(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position69888303
GeneCOL13A1
is asnp
is mentioned by
dbSNPrs864309663
dbSNP (classic)rs864309663
ClinGenrs864309663
ebirs864309663
HLIrs864309663
Exacrs864309663
Gnomadrs864309663
Varsomers864309663
LitVarrs864309663
Maprs864309663
PheGenIrs864309663
Biobankrs864309663
1000 genomesrs864309663
hgdprs864309663
ensemblrs864309663
geneviewrs864309663
scholarrs864309663
googlers864309663
pharmgkbrs864309663
gwascentralrs864309663
openSNPrs864309663
23andMers864309663
SNPshotrs864309663
SNPdbers864309663
MSV3drs864309663
GWAS Ctlgrs864309663
Max Magnitude0
ClinVar
Risk rs864309663(-;-)
Alt rs864309663(-;-)
Reference Rs864309663(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene COL13A1
CLNDBN Myasthenic syndrome, congenital, 19
Reversed 0
HGVS NC_000010.10:g.71648059delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000203249.1,