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rs397518420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518420(A;C)
Make rs397518420(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position67159416
GeneGPHN
is asnp
is mentioned by
dbSNPrs397518420
ebirs397518420
HLIrs397518420
Exacrs397518420
Varsomers397518420
Maprs397518420
PheGenIrs397518420
hapmaprs397518420
1000 genomesrs397518420
hgdprs397518420
ensemblrs397518420
gopubmedrs397518420
geneviewrs397518420
scholarrs397518420
googlers397518420
pharmgkbrs397518420
gwascentralrs397518420
openSNPrs397518420
23andMers397518420
23andMe allrs397518420
SNP Nexus

SNPshotrs397518420
SNPdbers397518420
MSV3drs397518420
GWAS Ctlgrs397518420
Max Magnitude0
ClinVar
Risk rs397518420(C;C)
Alt rs397518420(C;C)
Reference rs397518420(A;A)
Significance Pathogenic
Disease Molybdenum cofactor deficiency
Variation info
Gene GPHN
CLNDBN Molybdenum cofactor deficiency, complementation group C
Reversed 0
HGVS NC_000014.8:g.67626133A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074361.2,