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rs387906673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906673(C;C)
Make rs387906673(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131874314
GeneENPP1
is asnp
is mentioned by
dbSNPrs387906673
dbSNP (classic)rs387906673
ClinGenrs387906673
ebirs387906673
HLIrs387906673
Exacrs387906673
Gnomadrs387906673
Varsomers387906673
LitVarrs387906673
Maprs387906673
PheGenIrs387906673
Biobankrs387906673
1000 genomesrs387906673
hgdprs387906673
ensemblrs387906673
geneviewrs387906673
scholarrs387906673
googlers387906673
pharmgkbrs387906673
gwascentralrs387906673
openSNPrs387906673
23andMers387906673
SNPshotrs387906673
SNPdbers387906673
MSV3drs387906673
GWAS Ctlgrs387906673
Max Magnitude0
ClinVar
Risk rs387906673(C;C)
Alt rs387906673(C;C)
Reference Rs387906673(G;G)
Significance Pathogenic
Disease Arterial calcification of infancy
Variation info
Gene ENPP1
CLNDBN Arterial calcification of infancy
Reversed 0
HGVS NC_000006.11:g.132195454G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022721.19,