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rs387906857

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906857(A;G)
Make rs387906857(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position40637511
GeneSMARCE1
is asnp
is mentioned by
dbSNPrs387906857
ebirs387906857
HLIrs387906857
Exacrs387906857
Varsomers387906857
Maprs387906857
PheGenIrs387906857
hapmaprs387906857
1000 genomesrs387906857
hgdprs387906857
ensemblrs387906857
gopubmedrs387906857
geneviewrs387906857
scholarrs387906857
googlers387906857
pharmgkbrs387906857
gwascentralrs387906857
openSNPrs387906857
23andMers387906857
23andMe allrs387906857
SNP Nexus

SNPshotrs387906857
SNPdbers387906857
MSV3drs387906857
GWAS Ctlgrs387906857
Max Magnitude0
ClinVar
Risk rs387906857(G;G)
Alt rs387906857(G;G)
Reference rs387906857(A;A)
Significance Pathogenic
Disease Coffin-Siris syndrome Meningioma Coffin-siris syndrome 5
Variation info
Gene SMARCE1
CLNDBN Coffin-Siris syndrome Meningioma, familial Coffin-siris syndrome 5
Reversed 1
HGVS NC_000017.10:g.38793763T>C; NC_000017.10:g.38793763T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023251.3, RCV000193407.1, RCV000211089.1,