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rs863225258

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225258(C;C)
Make rs863225258(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position110575344
GeneSMC3
is asnp
is mentioned by
dbSNPrs863225258
ebirs863225258
HLIrs863225258
Exacrs863225258
Varsomers863225258
Maprs863225258
PheGenIrs863225258
hapmaprs863225258
1000 genomesrs863225258
hgdprs863225258
ensemblrs863225258
gopubmedrs863225258
geneviewrs863225258
scholarrs863225258
googlers863225258
pharmgkbrs863225258
gwascentralrs863225258
openSNPrs863225258
23andMers863225258
23andMe allrs863225258
SNP Nexus

SNPshotrs863225258
SNPdbers863225258
MSV3drs863225258
GWAS Ctlgrs863225258
Max Magnitude0
ClinVar
Risk rs863225258(C;C)
Alt rs863225258(C;C)
Reference rs863225258(T;T)
Significance Pathogenic
Disease Cornelia de Lange syndrome 3
Variation info
Gene SMC3
CLNDBN Cornelia de Lange syndrome 3
Reversed 0
HGVS NC_000010.10:g.112335102T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201864.1,