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rs796051869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796051869(-;T)
Make rs796051869(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position179836494
GeneSQSTM1
is asnp
is mentioned by
dbSNPrs796051869
dbSNP (classic)rs796051869
ClinGenrs796051869
ebirs796051869
HLIrs796051869
Exacrs796051869
Gnomadrs796051869
Varsomers796051869
LitVarrs796051869
Maprs796051869
PheGenIrs796051869
Biobankrs796051869
1000 genomesrs796051869
hgdprs796051869
ensemblrs796051869
geneviewrs796051869
scholarrs796051869
googlers796051869
pharmgkbrs796051869
gwascentralrs796051869
openSNPrs796051869
23andMers796051869
SNPshotrs796051869
SNPdbers796051869
MSV3drs796051869
GWAS Ctlgrs796051869
Max Magnitude0
ClinVar
Risk rs796051869(T;T)
Alt rs796051869(T;T)
Reference Rs796051869(-;-)
Significance Pathogenic
Disease Paget disease of bone
Variation info
Gene C5orf45 SQSTM1
CLNDBN Paget disease of bone, familial
Reversed 0
HGVS NC_000005.9:g.179263494dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008577.5,