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rs104894091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894091(A;A)
Make rs104894091(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position118933071
GeneTNFRSF11B
is asnp
is mentioned by
dbSNPrs104894091
dbSNP (classic)rs104894091
ClinGenrs104894091
ebirs104894091
HLIrs104894091
Exacrs104894091
Gnomadrs104894091
Varsomers104894091
LitVarrs104894091
Maprs104894091
PheGenIrs104894091
Biobankrs104894091
1000 genomesrs104894091
hgdprs104894091
ensemblrs104894091
geneviewrs104894091
scholarrs104894091
googlers104894091
pharmgkbrs104894091
gwascentralrs104894091
openSNPrs104894091
23andMers104894091
SNPshotrs104894091
SNPdbers104894091
MSV3drs104894091
GWAS Ctlgrs104894091
Max Magnitude0
OMIM602643
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894091(A;A)
Alt rs104894091(A;A)
Reference Rs104894091(G;G)
Significance Pathogenic
Disease Hyperphosphatasemia with bone disease
Variation info
Gene TNFRSF11B
CLNDBN Hyperphosphatasemia with bone disease
Reversed 1
HGVS NC_000008.10:g.119945310C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007385.5,