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rs199474699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474699(C;T)
Make rs199474699(T;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position15990
GeneC6orf130
is asnp
is mentioned by
dbSNPrs199474699
ebirs199474699
HLIrs199474699
Exacrs199474699
Varsomers199474699
Maprs199474699
PheGenIrs199474699
hapmaprs199474699
1000 genomesrs199474699
hgdprs199474699
ensemblrs199474699
gopubmedrs199474699
geneviewrs199474699
scholarrs199474699
googlers199474699
pharmgkbrs199474699
gwascentralrs199474699
openSNPrs199474699
23andMers199474699
23andMe allrs199474699
SNP Nexus

SNPshotrs199474699
SNPdbers199474699
MSV3drs199474699
GWAS Ctlgrs199474699
Max Magnitude0
ClinVar
Risk rs199474699(T;T)
Alt rs199474699(T;T)
Reference rs199474699(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene
CLNDBN Myopathy
Reversed 0
HGVS NC_012920.1:m.15990C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010183.2,