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rs587776797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776797(-;A)
Make rs587776797(A;A)
ReferenceGRCh38 38.1/142
Chromosome6
Position131883711
GeneENPP1
is asnp
is mentioned by
dbSNPrs587776797
dbSNP (classic)rs587776797
ClinGenrs587776797
ebirs587776797
HLIrs587776797
Exacrs587776797
Gnomadrs587776797
Varsomers587776797
LitVarrs587776797
Maprs587776797
PheGenIrs587776797
Biobankrs587776797
1000 genomesrs587776797
hgdprs587776797
ensemblrs587776797
geneviewrs587776797
scholarrs587776797
googlers587776797
pharmgkbrs587776797
gwascentralrs587776797
openSNPrs587776797
23andMers587776797
SNPshotrs587776797
SNPdbers587776797
MSV3drs587776797
GWAS Ctlgrs587776797
Max Magnitude0
ClinVar
Risk rs587776797(A;A)
Alt rs587776797(A;A)
Reference Rs587776797(-;-)
Significance Pathogenic
Disease Hypophosphatemic rickets
Variation info
Gene ENPP1
CLNDBN Hypophosphatemic rickets, autosomal recessive, 2
Reversed 0
HGVS NC_000006.11:g.132204851dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000014565.27,