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rs587783948

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783948(G;G)
Make rs587783948(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37010104
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783948
ebirs587783948
HLIrs587783948
Exacrs587783948
Varsomers587783948
Maprs587783948
PheGenIrs587783948
hapmaprs587783948
1000 genomesrs587783948
hgdprs587783948
ensemblrs587783948
gopubmedrs587783948
geneviewrs587783948
scholarrs587783948
googlers587783948
pharmgkbrs587783948
gwascentralrs587783948
openSNPrs587783948
23andMers587783948
23andMe allrs587783948
SNP Nexus

SNPshotrs587783948
SNPdbers587783948
MSV3drs587783948
GWAS Ctlgrs587783948
Max Magnitude0
ClinVar
Risk rs587783948(G;G)
Alt rs587783948(G;G)
Reference rs587783948(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.37010206T>G
CLNSRC
CLNACC RCV000146609.1,