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rs797045989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045989(A;G)
Make rs797045989(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position23833672
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs797045989
dbSNP (classic)rs797045989
ClinGenrs797045989
ebirs797045989
HLIrs797045989
Exacrs797045989
Gnomadrs797045989
Varsomers797045989
LitVarrs797045989
Maprs797045989
PheGenIrs797045989
Biobankrs797045989
1000 genomesrs797045989
hgdprs797045989
ensemblrs797045989
geneviewrs797045989
scholarrs797045989
googlers797045989
pharmgkbrs797045989
gwascentralrs797045989
openSNPrs797045989
23andMers797045989
SNPshotrs797045989
SNPdbers797045989
MSV3drs797045989
GWAS Ctlgrs797045989
Max Magnitude0
ClinVar
Risk rs797045989(G;G)
Alt rs797045989(G;G)
Reference Rs797045989(A;A)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene SMARCB1
CLNDBN Mental retardation, autosomal dominant 15
Reversed 0
HGVS NC_000022.10:g.24175859A>G
CLNSRC
CLNACC RCV000194966.1,