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rs587783977

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783977(A;G)
Make rs587783977(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022281
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783977
ebirs587783977
HLIrs587783977
Exacrs587783977
Varsomers587783977
Maprs587783977
PheGenIrs587783977
hapmaprs587783977
1000 genomesrs587783977
hgdprs587783977
ensemblrs587783977
gopubmedrs587783977
geneviewrs587783977
scholarrs587783977
googlers587783977
pharmgkbrs587783977
gwascentralrs587783977
openSNPrs587783977
23andMers587783977
23andMe allrs587783977
SNP Nexus

SNPshotrs587783977
SNPdbers587783977
MSV3drs587783977
GWAS Ctlgrs587783977
Max Magnitude0
ClinVar
Risk rs587783977(G;G)
Alt rs587783977(G;G)
Reference rs587783977(A;A)
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.37022383A>G
CLNSRC
CLNACC RCV000146646.1,