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rs1057518983

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518983(A;A)
Make rs1057518983(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position2123873
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs1057518983
dbSNP (old)rs1057518983
ClinGenrs1057518983
ebirs1057518983
HLIrs1057518983
Exacrs1057518983
Gnomadrs1057518983
Varsomers1057518983
Maprs1057518983
PheGenIrs1057518983
Biobankrs1057518983
1000 genomesrs1057518983
hgdprs1057518983
ensemblrs1057518983
gopubmedrs1057518983
geneviewrs1057518983
scholarrs1057518983
googlers1057518983
pharmgkbrs1057518983
gwascentralrs1057518983
openSNPrs1057518983
23andMers1057518983
23andMe allrs1057518983
SNPshotrs1057518983
SNPdbers1057518983
MSV3drs1057518983
GWAS Ctlgrs1057518983
Max Magnitude0
ClinVar
Risk rs1057518983(A;A)
Alt rs1057518983(A;A)
Reference Rs1057518983(G;G)
Significance Probable-Pathogenic
Disease Nicolaides-Baraitser syndrome
Variation info
Gene SMARCA2
CLNDBN Nicolaides-Baraitser syndrome
Reversed 0
HGVS NC_000009.11:g.2123873G>A
CLNSRC
CLNACC RCV000415335.1,