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rs869025309

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025309(C;T)
Make rs869025309(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position131941630
GenePUS1
is asnp
is mentioned by
dbSNPrs869025309
ebirs869025309
HLIrs869025309
Exacrs869025309
Varsomers869025309
Maprs869025309
PheGenIrs869025309
hapmaprs869025309
1000 genomesrs869025309
hgdprs869025309
ensemblrs869025309
gopubmedrs869025309
geneviewrs869025309
scholarrs869025309
googlers869025309
pharmgkbrs869025309
gwascentralrs869025309
openSNPrs869025309
23andMers869025309
23andMe allrs869025309
SNP Nexus

SNPshotrs869025309
SNPdbers869025309
MSV3drs869025309
GWAS Ctlgrs869025309
Max Magnitude0
ClinVar
Risk rs869025309(T;T)
Alt rs869025309(T;T)
Reference rs869025309(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene PUS1
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 1
Reversed 0
HGVS NC_000012.11:g.132426175C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207447.1,