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rs587783902

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783902(C;T)
Make rs587783902(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985602
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783902
ebirs587783902
HLIrs587783902
Exacrs587783902
Varsomers587783902
Maprs587783902
PheGenIrs587783902
hapmaprs587783902
1000 genomesrs587783902
hgdprs587783902
ensemblrs587783902
gopubmedrs587783902
geneviewrs587783902
scholarrs587783902
googlers587783902
pharmgkbrs587783902
gwascentralrs587783902
openSNPrs587783902
23andMers587783902
23andMe allrs587783902
SNP Nexus

SNPshotrs587783902
SNPdbers587783902
MSV3drs587783902
GWAS Ctlgrs587783902
Max Magnitude0
ClinVar
Risk rs587783902(T;T)
Alt rs587783902(T;T)
Reference rs587783902(C;C)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36985704C>T
CLNSRC
CLNACC RCV000146543.1,