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rs121908608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908608(G;T)
Make rs121908608(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position53108643
GeneDEFB112, MOCS2
is asnp
is mentioned by
dbSNPrs121908608
ebirs121908608
HLIrs121908608
Exacrs121908608
Varsomers121908608
Maprs121908608
PheGenIrs121908608
hapmaprs121908608
1000 genomesrs121908608
hgdprs121908608
ensemblrs121908608
gopubmedrs121908608
geneviewrs121908608
scholarrs121908608
googlers121908608
pharmgkbrs121908608
gwascentralrs121908608
openSNPrs121908608
23andMers121908608
23andMe allrs121908608
SNP Nexus

SNPshotrs121908608
SNPdbers121908608
MSV3drs121908608
GWAS Ctlgrs121908608
Max Magnitude0
OMIM603708
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908608(T;T)
Alt rs121908608(T;T)
Reference rs121908608(G;G)
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.52404473C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006488.5,