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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
ebirs28933977
HLIrs28933977
Exacrs28933977
Varsomers28933977
Maprs28933977
PheGenIrs28933977
hapmaprs28933977
1000 genomesrs28933977
hgdprs28933977
ensemblrs28933977
gopubmedrs28933977
geneviewrs28933977
scholarrs28933977
googlers28933977
pharmgkbrs28933977
gwascentralrs28933977
openSNPrs28933977
23andMers28933977
23andMe allrs28933977
SNP Nexus

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
Variation info
Gene ENPP1
CLNDBN Arterial calcification of infancy not specified
Reversed 0
HGVS NC_000006.11:g.132206079C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014555.2, RCV000176409.1,


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

GET Evidence
ENPP1-R774C
aa_change Arg774Cys
aa_change_short R774C
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0258412
summary Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.