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rs121918024

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918024(C;C)
Make rs121918024(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131877005
GeneENPP1
is asnp
is mentioned by
dbSNPrs121918024
dbSNP (classic)rs121918024
ClinGenrs121918024
ebirs121918024
HLIrs121918024
Exacrs121918024
Gnomadrs121918024
Varsomers121918024
LitVarrs121918024
Maprs121918024
PheGenIrs121918024
Biobankrs121918024
1000 genomesrs121918024
hgdprs121918024
ensemblrs121918024
geneviewrs121918024
scholarrs121918024
googlers121918024
pharmgkbrs121918024
gwascentralrs121918024
openSNPrs121918024
23andMers121918024
SNPshotrs121918024
SNPdbers121918024
MSV3drs121918024
GWAS Ctlgrs121918024
Max Magnitude0
OMIM173335
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918024(C;C)
Alt rs121918024(C;C)
Reference Rs121918024(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.132198145G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014557.26,