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rs864309662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309662(-;-)
Make rs864309662(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position69922770
GeneCOL13A1
is asnp
is mentioned by
dbSNPrs864309662
dbSNP (classic)rs864309662
ClinGenrs864309662
ebirs864309662
HLIrs864309662
Exacrs864309662
Gnomadrs864309662
Varsomers864309662
LitVarrs864309662
Maprs864309662
PheGenIrs864309662
Biobankrs864309662
1000 genomesrs864309662
hgdprs864309662
ensemblrs864309662
geneviewrs864309662
scholarrs864309662
googlers864309662
pharmgkbrs864309662
gwascentralrs864309662
openSNPrs864309662
23andMers864309662
SNPshotrs864309662
SNPdbers864309662
MSV3drs864309662
GWAS Ctlgrs864309662
Max Magnitude0
ClinVar
Risk rs864309662(-;-)
Alt rs864309662(-;-)
Reference Rs864309662(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene COL13A1
CLNDBN Myasthenic syndrome, congenital, 19
Reversed 0
HGVS NC_000010.10:g.71682526delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000203254.1,