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rs121918026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918026(A;T)
Make rs121918026(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position131864886
GeneENPP1
is asnp
is mentioned by
dbSNPrs121918026
dbSNP (classic)rs121918026
ClinGenrs121918026
ebirs121918026
HLIrs121918026
Exacrs121918026
Gnomadrs121918026
Varsomers121918026
LitVarrs121918026
Maprs121918026
PheGenIrs121918026
Biobankrs121918026
1000 genomesrs121918026
hgdprs121918026
ensemblrs121918026
geneviewrs121918026
scholarrs121918026
googlers121918026
pharmgkbrs121918026
gwascentralrs121918026
openSNPrs121918026
23andMers121918026
SNPshotrs121918026
SNPdbers121918026
MSV3drs121918026
GWAS Ctlgrs121918026
Max Magnitude0
OMIM173335
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918026(T;T)
Alt rs121918026(T;T)
Reference Rs121918026(A;A)
Significance Pathogenic
Disease Arterial calcification of infancy
Variation info
Gene ENPP1
CLNDBN Arterial calcification of infancy
Reversed 0
HGVS NC_000006.11:g.132186026A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014561.25,