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rs141982812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141982812(C;T)
Make rs141982812(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position39925677
GeneMOCS1
is asnp
is mentioned by
dbSNPrs141982812
ebirs141982812
HLIrs141982812
Exacrs141982812
Varsomers141982812
Maprs141982812
PheGenIrs141982812
hapmaprs141982812
1000 genomesrs141982812
hgdprs141982812
ensemblrs141982812
gopubmedrs141982812
geneviewrs141982812
scholarrs141982812
googlers141982812
pharmgkbrs141982812
gwascentralrs141982812
openSNPrs141982812
23andMers141982812
23andMe allrs141982812
SNP Nexus

SNPshotrs141982812
SNPdbers141982812
MSV3drs141982812
GWAS Ctlgrs141982812
Max Magnitude0
ClinVar
Risk rs141982812(T;T)
Alt rs141982812(T;T)
Reference rs141982812(C;C)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS1
CLNDBN Molybdenum cofactor deficiency, complementation group A
Reversed 0
HGVS NC_000006.11:g.39893421C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006494.5,