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rs397515439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515439(A;A)
Make rs397515439(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position134144330
GeneJAM3
is asnp
is mentioned by
dbSNPrs397515439
dbSNP (classic)rs397515439
ClinGenrs397515439
ebirs397515439
HLIrs397515439
Exacrs397515439
Gnomadrs397515439
Varsomers397515439
LitVarrs397515439
Maprs397515439
PheGenIrs397515439
Biobankrs397515439
1000 genomesrs397515439
hgdprs397515439
ensemblrs397515439
geneviewrs397515439
scholarrs397515439
googlers397515439
pharmgkbrs397515439
gwascentralrs397515439
openSNPrs397515439
23andMers397515439
SNPshotrs397515439
SNPdbers397515439
MSV3drs397515439
GWAS Ctlgrs397515439
Max Magnitude0
ClinVar
Risk rs397515439(A;A)
Alt rs397515439(A;A)
Reference Rs397515439(G;G)
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.134014225G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000034813.3,