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

rs397518418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518418(-;-)
Make rs397518418(-;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position39913352
GeneMOCS1
is asnp
is mentioned by
dbSNPrs397518418
ebirs397518418
HLIrs397518418
Exacrs397518418
Varsomers397518418
Maprs397518418
PheGenIrs397518418
hapmaprs397518418
1000 genomesrs397518418
hgdprs397518418
ensemblrs397518418
gopubmedrs397518418
geneviewrs397518418
scholarrs397518418
googlers397518418
pharmgkbrs397518418
gwascentralrs397518418
openSNPrs397518418
23andMers397518418
23andMe allrs397518418
SNP Nexus

SNPshotrs397518418
SNPdbers397518418
MSV3drs397518418
GWAS Ctlgrs397518418
Max Magnitude0
ClinVar
Risk rs397518418(;)
Alt rs397518418(;)
Reference rs397518418(T;T)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene MOCS1
CLNDBN Molybdenum cofactor deficiency, complementation group A
Reversed 1
HGVS NC_000006.11:g.39881096delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006491.4,