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rs267607190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607190(A;A)
Make rs267607190(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position108564313
GeneISCU
is asnp
is mentioned by
dbSNPrs267607190
ebirs267607190
HLIrs267607190
Exacrs267607190
Varsomers267607190
Maprs267607190
PheGenIrs267607190
hapmaprs267607190
1000 genomesrs267607190
hgdprs267607190
ensemblrs267607190
gopubmedrs267607190
geneviewrs267607190
scholarrs267607190
googlers267607190
pharmgkbrs267607190
gwascentralrs267607190
openSNPrs267607190
23andMers267607190
23andMe allrs267607190
SNP Nexus

SNPshotrs267607190
SNPdbers267607190
MSV3drs267607190
GWAS Ctlgrs267607190
Max Magnitude0
ClinVar
Risk rs267607190(A;A)
Alt rs267607190(A;A)
Reference rs267607190(G;G)
Significance Pathogenic
Disease Myopathy with lactic acidosis
Variation info
Gene ISCU
CLNDBN Myopathy with lactic acidosis, hereditary
Reversed 0
HGVS NC_000012.11:g.108958089G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000819.4,