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rs863224921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224921(A;G)
Make rs863224921(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position2115847
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs863224921
dbSNP (classic)rs863224921
ClinGenrs863224921
ebirs863224921
HLIrs863224921
Exacrs863224921
Gnomadrs863224921
Varsomers863224921
LitVarrs863224921
Maprs863224921
PheGenIrs863224921
Biobankrs863224921
1000 genomesrs863224921
hgdprs863224921
ensemblrs863224921
geneviewrs863224921
scholarrs863224921
googlers863224921
pharmgkbrs863224921
gwascentralrs863224921
openSNPrs863224921
23andMers863224921
SNPshotrs863224921
SNPdbers863224921
MSV3drs863224921
GWAS Ctlgrs863224921
Max Magnitude0
ClinVar
Risk rs863224921(G;G)
Alt rs863224921(G;G)
Reference Rs863224921(A;A)
Significance Probable-Pathogenic
Disease Nicolaides-Baraitser syndrome
Variation info
Gene SMARCA2
CLNDBN Nicolaides-Baraitser syndrome
Reversed 0
HGVS NC_000009.11:g.2115847A>G
CLNSRC
CLNACC RCV000200789.1,