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rs397518477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518477(C;C)
Make rs397518477(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131851157
GeneENPP1
is asnp
is mentioned by
dbSNPrs397518477
dbSNP (classic)rs397518477
ClinGenrs397518477
ebirs397518477
HLIrs397518477
Exacrs397518477
Gnomadrs397518477
Varsomers397518477
LitVarrs397518477
Maprs397518477
PheGenIrs397518477
Biobankrs397518477
1000 genomesrs397518477
hgdprs397518477
ensemblrs397518477
geneviewrs397518477
scholarrs397518477
googlers397518477
pharmgkbrs397518477
gwascentralrs397518477
openSNPrs397518477
23andMers397518477
SNPshotrs397518477
SNPdbers397518477
MSV3drs397518477
GWAS Ctlgrs397518477
Max Magnitude0
ClinVar
Risk rs397518477(C;C)
Alt rs397518477(C;C)
Reference Rs397518477(G;G)
Significance Pathogenic
Disease Cole disease
Variation info
Gene ENPP1
CLNDBN Cole disease
Reversed 0
HGVS NC_000006.11:g.132172297G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074403.25,