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rs587783998

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783998(C;C)
Make rs587783998(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044408
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783998
ebirs587783998
HLIrs587783998
Exacrs587783998
Varsomers587783998
Maprs587783998
PheGenIrs587783998
hapmaprs587783998
1000 genomesrs587783998
hgdprs587783998
ensemblrs587783998
gopubmedrs587783998
geneviewrs587783998
scholarrs587783998
googlers587783998
pharmgkbrs587783998
gwascentralrs587783998
openSNPrs587783998
23andMers587783998
23andMe allrs587783998
SNP Nexus

SNPshotrs587783998
SNPdbers587783998
MSV3drs587783998
GWAS Ctlgrs587783998
Max Magnitude0
ClinVar
Risk rs587783998(C;C)
Alt rs587783998(C;C)
Reference rs587783998(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.37044510T>C
CLNSRC
CLNACC RCV000146673.1,