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rs398122368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122368(A;A)
Make rs398122368(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position23791772
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs398122368
dbSNP (classic)rs398122368
ClinGenrs398122368
ebirs398122368
HLIrs398122368
Exacrs398122368
Gnomadrs398122368
Varsomers398122368
LitVarrs398122368
Maprs398122368
PheGenIrs398122368
Biobankrs398122368
1000 genomesrs398122368
hgdprs398122368
ensemblrs398122368
geneviewrs398122368
scholarrs398122368
googlers398122368
pharmgkbrs398122368
gwascentralrs398122368
openSNPrs398122368
23andMers398122368
SNPshotrs398122368
SNPdbers398122368
MSV3drs398122368
GWAS Ctlgrs398122368
Max Magnitude0
ClinVar
Risk rs398122368(A;A)
Alt rs398122368(A;A)
Reference Rs398122368(G;G)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene SMARCB1
CLNDBN Mental retardation, autosomal dominant 15 not provided
Reversed 0
HGVS NC_000022.10:g.24133959G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074462.4, RCV000262341.1,