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rs104894371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894371(C;T)
Make rs104894371(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position131932301
GenePUS1
is asnp
is mentioned by
dbSNPrs104894371
ebirs104894371
HLIrs104894371
Exacrs104894371
Varsomers104894371
Maprs104894371
PheGenIrs104894371
hapmaprs104894371
1000 genomesrs104894371
hgdprs104894371
ensemblrs104894371
gopubmedrs104894371
geneviewrs104894371
scholarrs104894371
googlers104894371
pharmgkbrs104894371
gwascentralrs104894371
openSNPrs104894371
23andMers104894371
23andMe allrs104894371
SNP Nexus

SNPshotrs104894371
SNPdbers104894371
MSV3drs104894371
GWAS Ctlgrs104894371
Max Magnitude0
OMIM608109
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894371(T;T)
Alt rs104894371(T;T)
Reference rs104894371(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.132416846C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002645.2,