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rs397514477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514477(C;T)
Make rs397514477(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position29708415
GeneC19orf12
is asnp
is mentioned by
dbSNPrs397514477
ebirs397514477
HLIrs397514477
Exacrs397514477
Varsomers397514477
Maprs397514477
PheGenIrs397514477
hapmaprs397514477
1000 genomesrs397514477
hgdprs397514477
ensemblrs397514477
gopubmedrs397514477
geneviewrs397514477
scholarrs397514477
googlers397514477
pharmgkbrs397514477
gwascentralrs397514477
openSNPrs397514477
23andMers397514477
23andMe allrs397514477
SNP Nexus

SNPshotrs397514477
SNPdbers397514477
MSV3drs397514477
GWAS Ctlgrs397514477
Max Magnitude0
ClinVar
Risk rs397514477(T;T)
Alt rs397514477(T;T)
Reference rs397514477(C;C)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 4
Variation info
Gene C19orf12
CLNDBN Neurodegeneration with brain iron accumulation 4
Reversed 1
HGVS NC_000019.9:g.30199322G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024152.5,