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rs397518419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs397518419(-;-)
Make rs397518419(-;AG)
ReferenceGRCh38 38.1/141
Chromosome6
Position39906759
GeneMOCS1
is asnp
is mentioned by
dbSNPrs397518419
ebirs397518419
HLIrs397518419
Exacrs397518419
Varsomers397518419
Maprs397518419
PheGenIrs397518419
hapmaprs397518419
1000 genomesrs397518419
hgdprs397518419
ensemblrs397518419
gopubmedrs397518419
geneviewrs397518419
scholarrs397518419
googlers397518419
pharmgkbrs397518419
gwascentralrs397518419
openSNPrs397518419
23andMers397518419
23andMe allrs397518419
SNP Nexus

SNPshotrs397518419
SNPdbers397518419
MSV3drs397518419
GWAS Ctlgrs397518419
Max Magnitude0
ClinVar
Risk rs397518419(;)
Alt rs397518419(;)
Reference rs397518419(AG;AG)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS1
CLNDBN Molybdenum cofactor deficiency, complementation group A
Reversed 1
HGVS NC_000006.11:g.39874535_39874536delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006492.5,