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rs104893969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893969(A;A)
Make rs104893969(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position39912289
GeneMOCS1
is asnp
is mentioned by
dbSNPrs104893969
ebirs104893969
HLIrs104893969
Exacrs104893969
Varsomers104893969
Maprs104893969
PheGenIrs104893969
hapmaprs104893969
1000 genomesrs104893969
hgdprs104893969
ensemblrs104893969
gopubmedrs104893969
geneviewrs104893969
scholarrs104893969
googlers104893969
pharmgkbrs104893969
gwascentralrs104893969
openSNPrs104893969
23andMers104893969
23andMe allrs104893969
SNP Nexus

SNPshotrs104893969
SNPdbers104893969
MSV3drs104893969
GWAS Ctlgrs104893969
Max Magnitude0
OMIM603707
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893969(A;A)
Alt rs104893969(A;A)
Reference rs104893969(G;G)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS1
CLNDBN Molybdenum cofactor deficiency, complementation group A
Reversed 1
HGVS NC_000006.11:g.39880033C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006493.5,