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rs28933977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28933977(C;T)
Make rs28933977(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position131884939
GeneENPP1
is asnp
is mentioned by
dbSNPrs28933977
dbSNP (classic)rs28933977
ClinGenrs28933977
ebirs28933977
HLIrs28933977
Exacrs28933977
Gnomadrs28933977
Varsomers28933977
LitVarrs28933977
Maprs28933977
PheGenIrs28933977
Biobankrs28933977
1000 genomesrs28933977
hgdprs28933977
ensemblrs28933977
geneviewrs28933977
scholarrs28933977
googlers28933977
pharmgkbrs28933977
gwascentralrs28933977
openSNPrs28933977
23andMers28933977
SNPshotrs28933977
SNPdbers28933977
MSV3drs28933977
GWAS Ctlgrs28933977
GMAF0.02433
Max Magnitude0
OMIM173335
DescARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
Variant0003
Relatedalso
ClinVar
Risk rs28933977(T;T)
Alt rs28933977(T;T)
Reference Rs28933977(C;C)
Significance Other
Disease Arterial calcification of infancy not specified Hypophosphatemic Rickets
Variation info
Gene ENPP1
CLNDBN Arterial calcification of infancy not specified Hypophosphatemic Rickets, Recessive
Reversed 0
HGVS NC_000006.11:g.132206079C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014555.3, RCV000176409.1, RCV000394923.1,


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