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rs121908607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908607(C;T)
Make rs121908607(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position53109714
GeneDEFB112, MOCS2
is asnp
is mentioned by
dbSNPrs121908607
ebirs121908607
HLIrs121908607
Exacrs121908607
Varsomers121908607
Maprs121908607
PheGenIrs121908607
hapmaprs121908607
1000 genomesrs121908607
hgdprs121908607
ensemblrs121908607
gopubmedrs121908607
geneviewrs121908607
scholarrs121908607
googlers121908607
pharmgkbrs121908607
gwascentralrs121908607
openSNPrs121908607
23andMers121908607
23andMe allrs121908607
SNP Nexus

SNPshotrs121908607
SNPdbers121908607
MSV3drs121908607
GWAS Ctlgrs121908607
Max Magnitude0
OMIM603708
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908607(T;T)
Alt rs121908607(T;T)
Reference rs121908607(C;C)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS2 LOC257396
CLNDBN Molybdenum cofactor deficiency, complementation group B
Reversed 1
HGVS NC_000005.9:g.52405544G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006487.4,