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rs796052213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796052213(A;T)
Make rs796052213(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position179833749
GeneSQSTM1
is asnp
is mentioned by
dbSNPrs796052213
dbSNP (classic)rs796052213
ClinGenrs796052213
ebirs796052213
HLIrs796052213
Exacrs796052213
Gnomadrs796052213
Varsomers796052213
LitVarrs796052213
Maprs796052213
PheGenIrs796052213
Biobankrs796052213
1000 genomesrs796052213
hgdprs796052213
ensemblrs796052213
geneviewrs796052213
scholarrs796052213
googlers796052213
pharmgkbrs796052213
gwascentralrs796052213
openSNPrs796052213
23andMers796052213
SNPshotrs796052213
SNPdbers796052213
MSV3drs796052213
GWAS Ctlgrs796052213
Max Magnitude0
ClinVar
Risk rs796052213(T;T)
Alt rs796052213(T;T)
Reference Rs796052213(A;A)
Significance Pathogenic
Disease Paget disease of bone
Variation info
Gene SQSTM1
CLNDBN Paget disease of bone, familial
Reversed 0
HGVS NC_000005.9:g.179260749A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000184064.3,