Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122799(-;-)
Make rs398122799(-;C)
Make rs398122799(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position53107109
GeneMOCS2
is asnp
is mentioned by
dbSNPrs398122799
ebirs398122799
HLIrs398122799
Exacrs398122799
Varsomers398122799
Maprs398122799
PheGenIrs398122799
hapmaprs398122799
1000 genomesrs398122799
hgdprs398122799
ensemblrs398122799
gopubmedrs398122799
geneviewrs398122799
scholarrs398122799
googlers398122799
pharmgkbrs398122799
gwascentralrs398122799
openSNPrs398122799
23andMers398122799
23andMe allrs398122799
SNP Nexus

SNPshotrs398122799
SNPdbers398122799
MSV3drs398122799
GWAS Ctlgrs398122799
Max Magnitude0
ClinVar
Risk rs398122799(C;C)
Alt rs398122799(C;C)
Reference rs398122799(;)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS2
CLNDBN Molybdenum cofactor deficiency, complementation group B
Reversed 1
HGVS NC_000005.9:g.52402940dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006485.3,