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rs397514678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514678(G;G)
Make rs397514678(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position134069085
GeneJAM3
is asnp
is mentioned by
dbSNPrs397514678
ebirs397514678
HLIrs397514678
Exacrs397514678
Varsomers397514678
Maprs397514678
PheGenIrs397514678
hapmaprs397514678
1000 genomesrs397514678
hgdprs397514678
ensemblrs397514678
gopubmedrs397514678
geneviewrs397514678
scholarrs397514678
googlers397514678
pharmgkbrs397514678
gwascentralrs397514678
openSNPrs397514678
23andMers397514678
23andMe allrs397514678
SNP Nexus

SNPshotrs397514678
SNPdbers397514678
MSV3drs397514678
GWAS Ctlgrs397514678
Max Magnitude0
ClinVar
Risk rs397514678(C,G;C,G)
Alt rs397514678(C,G;C,G)
Reference rs397514678(T;T)
Significance Pathogenic
Disease Hemorrhagic destruction of the brain
Variation info
Gene JAM3
CLNDBN Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Reversed 0
HGVS NC_000011.9:g.133938980T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000034814.3,