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rs104894092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894092(C;C)
Make rs104894092(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position118932982
GeneTNFRSF11B
is asnp
is mentioned by
dbSNPrs104894092
dbSNP (classic)rs104894092
ClinGenrs104894092
ebirs104894092
HLIrs104894092
Exacrs104894092
Gnomadrs104894092
Varsomers104894092
LitVarrs104894092
Maprs104894092
PheGenIrs104894092
Biobankrs104894092
1000 genomesrs104894092
hgdprs104894092
ensemblrs104894092
geneviewrs104894092
scholarrs104894092
googlers104894092
pharmgkbrs104894092
gwascentralrs104894092
openSNPrs104894092
23andMers104894092
SNPshotrs104894092
SNPdbers104894092
MSV3drs104894092
GWAS Ctlgrs104894092
Max Magnitude0
OMIM602643
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894092(C;C)
Alt rs104894092(C;C)
Reference Rs104894092(T;T)
Significance Pathogenic
Disease Hyperphosphatasemia with bone disease
Variation info
Gene TNFRSF11B
CLNDBN Hyperphosphatasemia with bone disease
Reversed 1
HGVS NC_000008.10:g.119945221A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007386.5,