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rs587783980

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783980(G;G)
Make rs587783980(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37024721
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783980
ebirs587783980
HLIrs587783980
Exacrs587783980
Varsomers587783980
Maprs587783980
PheGenIrs587783980
hapmaprs587783980
1000 genomesrs587783980
hgdprs587783980
ensemblrs587783980
gopubmedrs587783980
geneviewrs587783980
scholarrs587783980
googlers587783980
pharmgkbrs587783980
gwascentralrs587783980
openSNPrs587783980
23andMers587783980
23andMe allrs587783980
SNP Nexus

SNPshotrs587783980
SNPdbers587783980
MSV3drs587783980
GWAS Ctlgrs587783980
Max Magnitude0
ClinVar
Risk rs587783980(G;G)
Alt rs587783980(G;G)
Reference rs587783980(T;T)
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.37024823T>G
CLNSRC
CLNACC RCV000146651.1,