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rs140243105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140243105(C;T)
Make rs140243105(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position39912909
GeneMOCS1
is asnp
is mentioned by
dbSNPrs140243105
dbSNP (classic)rs140243105
ClinGenrs140243105
ebirs140243105
HLIrs140243105
Exacrs140243105
Gnomadrs140243105
Varsomers140243105
LitVarrs140243105
Maprs140243105
PheGenIrs140243105
Biobankrs140243105
1000 genomesrs140243105
hgdprs140243105
ensemblrs140243105
geneviewrs140243105
scholarrs140243105
googlers140243105
pharmgkbrs140243105
gwascentralrs140243105
openSNPrs140243105
23andMers140243105
SNPshotrs140243105
SNPdbers140243105
MSV3drs140243105
GWAS Ctlgrs140243105
Max Magnitude0
ClinVar
Risk rs140243105(G;G) rs140243105(T;T)
Alt rs140243105(G;G) rs140243105(T;T)
Reference Rs140243105(C;C)
Significance Probable-non-pathogenic
Disease Molybdenum cofactor deficiency Molybdenum cofactor deficiency not provided
Variation info
Gene MOCS1
CLNDBN Molybdenum cofactor deficiency, complementation group A Molybdenum cofactor deficiency not provided
Reversed 0
HGVS NC_000006.11:g.39880653C>T
CLNSRC
CLNACC RCV000190510.2, RCV000342974.1, RCV000415797.1,