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rs1057518982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518982(C;C)
Make rs1057518982(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position2115860
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs1057518982
dbSNP (old)rs1057518982
ClinGenrs1057518982
ebirs1057518982
HLIrs1057518982
Exacrs1057518982
Gnomadrs1057518982
Varsomers1057518982
Maprs1057518982
PheGenIrs1057518982
Biobankrs1057518982
1000 genomesrs1057518982
hgdprs1057518982
ensemblrs1057518982
gopubmedrs1057518982
geneviewrs1057518982
scholarrs1057518982
googlers1057518982
pharmgkbrs1057518982
gwascentralrs1057518982
openSNPrs1057518982
23andMers1057518982
23andMe allrs1057518982
SNPshotrs1057518982
SNPdbers1057518982
MSV3drs1057518982
GWAS Ctlgrs1057518982
Max Magnitude0
ClinVar
Risk rs1057518982(C;C)
Alt rs1057518982(C;C)
Reference Rs1057518982(G;G)
Significance Probable-Pathogenic
Disease Nicolaides-Baraitser syndrome
Variation info
Gene SMARCA2
CLNDBN Nicolaides-Baraitser syndrome
Reversed 0
HGVS NC_000009.11:g.2115860G>C
CLNSRC
CLNACC RCV000415335.1,