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rs200071478

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200071478(C;C)
Make rs200071478(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position118933105
GeneTNFRSF11B
is asnp
is mentioned by
dbSNPrs200071478
ebirs200071478
HLIrs200071478
Exacrs200071478
Varsomers200071478
Maprs200071478
PheGenIrs200071478
hapmaprs200071478
1000 genomesrs200071478
hgdprs200071478
ensemblrs200071478
gopubmedrs200071478
geneviewrs200071478
scholarrs200071478
googlers200071478
pharmgkbrs200071478
gwascentralrs200071478
openSNPrs200071478
23andMers200071478
23andMe allrs200071478
SNP Nexus

SNPshotrs200071478
SNPdbers200071478
MSV3drs200071478
GWAS Ctlgrs200071478
Max Magnitude0
ClinVar
Risk rs200071478(C;C)
Alt rs200071478(C;C)
Reference rs200071478(T;T)
Significance Pathogenic
Disease Hyperphosphatasemia with bone disease
Variation info
Gene TNFRSF11B
CLNDBN Hyperphosphatasemia with bone disease
Reversed 0
HGVS NC_000008.10:g.119945344T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000190837.2,