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rs398122798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGAC;TGAC) 0 common in clinvar
Make rs398122798(-;-)
Make rs398122798(-;TGAC)
ReferenceGRCh38 38.1/141
Chromosome5
Position53101387
GeneMOCS2
is asnp
is mentioned by
dbSNPrs398122798
dbSNP (classic)rs398122798
ClinGenrs398122798
ebirs398122798
HLIrs398122798
Exacrs398122798
Gnomadrs398122798
Varsomers398122798
LitVarrs398122798
Maprs398122798
PheGenIrs398122798
Biobankrs398122798
1000 genomesrs398122798
hgdprs398122798
ensemblrs398122798
geneviewrs398122798
scholarrs398122798
googlers398122798
pharmgkbrs398122798
gwascentralrs398122798
openSNPrs398122798
23andMers398122798
SNPshotrs398122798
SNPdbers398122798
MSV3drs398122798
GWAS Ctlgrs398122798
Max Magnitude0
ClinVar
Risk rs398122798(-;-)
Alt rs398122798(-;-)
Reference Rs398122798(TGAC;TGAC)
Significance Pathogenic
Disease Molybdenum cofactor deficiency Molybdenum cofactor deficiency
Variation info
Gene MOCS2
CLNDBN Molybdenum cofactor deficiency, complementation group B Molybdenum cofactor deficiency
Reversed 0
HGVS NC_000005.9:g.52397217_52397220delTGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006484.4, RCV000288995.1,