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rs104893970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893970(C;T)
Make rs104893970(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position39927362
GeneMOCS1
is asnp
is mentioned by
dbSNPrs104893970
ebirs104893970
HLIrs104893970
Exacrs104893970
Varsomers104893970
Maprs104893970
PheGenIrs104893970
hapmaprs104893970
1000 genomesrs104893970
hgdprs104893970
ensemblrs104893970
gopubmedrs104893970
geneviewrs104893970
scholarrs104893970
googlers104893970
pharmgkbrs104893970
gwascentralrs104893970
openSNPrs104893970
23andMers104893970
23andMe allrs104893970
SNP Nexus

SNPshotrs104893970
SNPdbers104893970
MSV3drs104893970
GWAS Ctlgrs104893970
Max Magnitude0
OMIM603707
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893970(T;T)
Alt rs104893970(T;T)
Reference rs104893970(C;C)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS1
CLNDBN Molybdenum cofactor deficiency, complementation group A
Reversed 1
HGVS NC_000006.11:g.39895101G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006495.3,