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rs121908658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908658(G;T)
Make rs121908658(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position62361793
GeneTNFRSF11A
is asnp
is mentioned by
dbSNPrs121908658
dbSNP (classic)rs121908658
ClinGenrs121908658
ebirs121908658
HLIrs121908658
Exacrs121908658
Gnomadrs121908658
Varsomers121908658
LitVarrs121908658
Maprs121908658
PheGenIrs121908658
Biobankrs121908658
1000 genomesrs121908658
hgdprs121908658
ensemblrs121908658
geneviewrs121908658
scholarrs121908658
googlers121908658
pharmgkbrs121908658
gwascentralrs121908658
openSNPrs121908658
23andMers121908658
SNPshotrs121908658
SNPdbers121908658
MSV3drs121908658
GWAS Ctlgrs121908658
Max Magnitude0
OMIM603499
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908658(T;T)
Alt rs121908658(T;T)
Reference Rs121908658(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.60029026G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006684.3,