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rs121908659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908659(C;C)
Make rs121908659(C;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position62348249
GeneTNFRSF11A
is asnp
is mentioned by
dbSNPrs121908659
dbSNP (classic)rs121908659
ClinGenrs121908659
ebirs121908659
HLIrs121908659
Exacrs121908659
Gnomadrs121908659
Varsomers121908659
LitVarrs121908659
Maprs121908659
PheGenIrs121908659
Biobankrs121908659
1000 genomesrs121908659
hgdprs121908659
ensemblrs121908659
geneviewrs121908659
scholarrs121908659
googlers121908659
pharmgkbrs121908659
gwascentralrs121908659
openSNPrs121908659
23andMers121908659
SNPshotrs121908659
SNPdbers121908659
MSV3drs121908659
GWAS Ctlgrs121908659
Max Magnitude0
OMIM603499
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908659(C;C)
Alt rs121908659(C;C)
Reference Rs121908659(G;G)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 7
Variation info
Gene TNFRSF11A
CLNDBN Osteopetrosis autosomal recessive 7
Reversed 0
HGVS NC_000018.9:g.60015482G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006685.2,