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rs875989800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs875989800(-;-)
Make rs875989800(-;AGA)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position23833676
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs875989800
dbSNP (classic)rs875989800
ClinGenrs875989800
ebirs875989800
HLIrs875989800
Exacrs875989800
Gnomadrs875989800
Varsomers875989800
LitVarrs875989800
Maprs875989800
PheGenIrs875989800
Biobankrs875989800
1000 genomesrs875989800
hgdprs875989800
ensemblrs875989800
geneviewrs875989800
scholarrs875989800
googlers875989800
pharmgkbrs875989800
gwascentralrs875989800
openSNPrs875989800
23andMers875989800
SNPshotrs875989800
SNPdbers875989800
MSV3drs875989800
GWAS Ctlgrs875989800
Max Magnitude0
ClinVar
Risk rs875989800(-;-)
Alt rs875989800(-;-)
Reference Rs875989800(AGA;AGA)
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.24175863_24175865delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023121.5, RCV000377856.1,