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rs121908609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908609(A;C)
Make rs121908609(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position53098602
GeneMOCS2
is asnp
is mentioned by
dbSNPrs121908609
dbSNP (classic)rs121908609
ClinGenrs121908609
ebirs121908609
HLIrs121908609
Exacrs121908609
Gnomadrs121908609
Varsomers121908609
LitVarrs121908609
Maprs121908609
PheGenIrs121908609
Biobankrs121908609
1000 genomesrs121908609
hgdprs121908609
ensemblrs121908609
geneviewrs121908609
scholarrs121908609
googlers121908609
pharmgkbrs121908609
gwascentralrs121908609
openSNPrs121908609
23andMers121908609
SNPshotrs121908609
SNPdbers121908609
MSV3drs121908609
GWAS Ctlgrs121908609
Max Magnitude0
OMIM603708
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908609(C;C)
Alt rs121908609(C;C)
Reference Rs121908609(A;A)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS2
CLNDBN Molybdenum cofactor deficiency, complementation group B
Reversed 1
HGVS NC_000005.9:g.52394432T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006489.5,