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rs397518475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518475(A;A)
Make rs397518475(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131851241
GeneENPP1
is asnp
is mentioned by
dbSNPrs397518475
ebirs397518475
HLIrs397518475
Exacrs397518475
Varsomers397518475
Maprs397518475
PheGenIrs397518475
hapmaprs397518475
1000 genomesrs397518475
hgdprs397518475
ensemblrs397518475
gopubmedrs397518475
geneviewrs397518475
scholarrs397518475
googlers397518475
pharmgkbrs397518475
gwascentralrs397518475
openSNPrs397518475
23andMers397518475
23andMe allrs397518475
SNP Nexus

SNPshotrs397518475
SNPdbers397518475
MSV3drs397518475
GWAS Ctlgrs397518475
Max Magnitude0
ClinVar
Risk rs397518475(A;A)
Alt rs397518475(A;A)
Reference rs397518475(G;G)
Significance Pathogenic
Disease Cole disease
Variation info
Gene ENPP1
CLNDBN Cole disease
Reversed 0
HGVS NC_000006.11:g.132172381G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074401.26,