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rs374270497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374270497(A;A)
Make rs374270497(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position131860504
GeneENPP1
is asnp
is mentioned by
dbSNPrs374270497
dbSNP (classic)rs374270497
ClinGenrs374270497
ebirs374270497
HLIrs374270497
Exacrs374270497
Gnomadrs374270497
Varsomers374270497
LitVarrs374270497
Maprs374270497
PheGenIrs374270497
Biobankrs374270497
1000 genomesrs374270497
hgdprs374270497
ensemblrs374270497
geneviewrs374270497
scholarrs374270497
googlers374270497
pharmgkbrs374270497
gwascentralrs374270497
openSNPrs374270497
23andMers374270497
SNPshotrs374270497
SNPdbers374270497
MSV3drs374270497
GWAS Ctlgrs374270497
Max Magnitude0
ClinVar
Risk rs374270497(A;A) rs374270497(T;T)
Alt rs374270497(A;A) rs374270497(T;T)
Reference Rs374270497(C;C)
Significance Pathogenic
Disease Arterial calcification of infancy Hypophosphatemic Rickets not provided
Variation info
Gene ENPP1
CLNDBN Arterial calcification of infancy Hypophosphatemic Rickets, Recessive not provided
Reversed 0
HGVS NC_000006.11:g.132181644C>A; NC_000006.11:g.132181644C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022720.26, RCV000266886.1, RCV000481485.1,