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rs587783997

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783997(C;C)
Make rs587783997(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044396
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783997
ebirs587783997
HLIrs587783997
Exacrs587783997
Varsomers587783997
Maprs587783997
PheGenIrs587783997
hapmaprs587783997
1000 genomesrs587783997
hgdprs587783997
ensemblrs587783997
gopubmedrs587783997
geneviewrs587783997
scholarrs587783997
googlers587783997
pharmgkbrs587783997
gwascentralrs587783997
openSNPrs587783997
23andMers587783997
23andMe allrs587783997
SNP Nexus

SNPshotrs587783997
SNPdbers587783997
MSV3drs587783997
GWAS Ctlgrs587783997
Max Magnitude0
ClinVar
Risk rs587783997(C;C)
Alt rs587783997(C;C)
Reference rs587783997(T;T)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37044498T>C
CLNSRC
CLNACC RCV000146671.1,