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rs397518476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518476(C;C)
Make rs397518476(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131851202
GeneENPP1
is asnp
is mentioned by
dbSNPrs397518476
ebirs397518476
HLIrs397518476
Exacrs397518476
Varsomers397518476
Maprs397518476
PheGenIrs397518476
hapmaprs397518476
1000 genomesrs397518476
hgdprs397518476
ensemblrs397518476
gopubmedrs397518476
geneviewrs397518476
scholarrs397518476
googlers397518476
pharmgkbrs397518476
gwascentralrs397518476
openSNPrs397518476
23andMers397518476
23andMe allrs397518476
SNP Nexus

SNPshotrs397518476
SNPdbers397518476
MSV3drs397518476
GWAS Ctlgrs397518476
Max Magnitude0
ClinVar
Risk rs397518476(C;C)
Alt rs397518476(C;C)
Reference rs397518476(G;G)
Significance Pathogenic
Disease Cole disease
Variation info
Gene ENPP1
CLNDBN Cole disease
Reversed 0
HGVS NC_000006.11:g.132172342G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074402.25,