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rs121908248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908248(G;T)
Make rs121908248(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position131860388
GeneENPP1
is asnp
is mentioned by
dbSNPrs121908248
ebirs121908248
HLIrs121908248
Exacrs121908248
Varsomers121908248
Maprs121908248
PheGenIrs121908248
hapmaprs121908248
1000 genomesrs121908248
hgdprs121908248
ensemblrs121908248
gopubmedrs121908248
geneviewrs121908248
scholarrs121908248
googlers121908248
pharmgkbrs121908248
gwascentralrs121908248
openSNPrs121908248
23andMers121908248
23andMe allrs121908248
SNP Nexus

SNPshotrs121908248
SNPdbers121908248
MSV3drs121908248
GWAS Ctlgrs121908248
Max Magnitude0
OMIM173335
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908248(T;T)
Alt rs121908248(T;T)
Reference rs121908248(G;G)
Significance Pathogenic
Disease Hypophosphatemic rickets Arterial calcification of infancy
Variation info
Gene ENPP1
CLNDBN Hypophosphatemic rickets, autosomal recessive, 2 Arterial calcification of infancy
Reversed 0
HGVS NC_000006.11:g.132181528G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000014563.22, RCV000014564.21,


[PMID 20137773OA-icon.png] Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.