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rs104894372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894372(G;T)
Make rs104894372(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position131941405
GenePUS1
is asnp
is mentioned by
dbSNPrs104894372
ebirs104894372
HLIrs104894372
Exacrs104894372
Varsomers104894372
Maprs104894372
PheGenIrs104894372
hapmaprs104894372
1000 genomesrs104894372
hgdprs104894372
ensemblrs104894372
gopubmedrs104894372
geneviewrs104894372
scholarrs104894372
googlers104894372
pharmgkbrs104894372
gwascentralrs104894372
openSNPrs104894372
23andMers104894372
23andMe allrs104894372
SNP Nexus

SNPshotrs104894372
SNPdbers104894372
MSV3drs104894372
GWAS Ctlgrs104894372
Max Magnitude0
OMIM608109
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894372(T;T)
Alt rs104894372(T;T)
Reference rs104894372(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene PUS1
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 1
Reversed 0
HGVS NC_000012.11:g.132425950G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002646.2,