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rs121918023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918023(G;T)
Make rs121918023(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position131890410
GeneENPP1
is asnp
is mentioned by
dbSNPrs121918023
dbSNP (classic)rs121918023
ClinGenrs121918023
ebirs121918023
HLIrs121918023
Exacrs121918023
Gnomadrs121918023
Varsomers121918023
LitVarrs121918023
Maprs121918023
PheGenIrs121918023
Biobankrs121918023
1000 genomesrs121918023
hgdprs121918023
ensemblrs121918023
geneviewrs121918023
scholarrs121918023
googlers121918023
pharmgkbrs121918023
gwascentralrs121918023
openSNPrs121918023
23andMers121918023
SNPshotrs121918023
SNPdbers121918023
MSV3drs121918023
GWAS Ctlgrs121918023
Max Magnitude0
OMIM173335
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918023(T;T)
Alt rs121918023(T;T)
Reference Rs121918023(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.132211550G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014554.25,