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rs587783978

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783978(A;A)
Make rs587783978(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022299
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783978
ebirs587783978
HLIrs587783978
Exacrs587783978
Varsomers587783978
Maprs587783978
PheGenIrs587783978
hapmaprs587783978
1000 genomesrs587783978
hgdprs587783978
ensemblrs587783978
gopubmedrs587783978
geneviewrs587783978
scholarrs587783978
googlers587783978
pharmgkbrs587783978
gwascentralrs587783978
openSNPrs587783978
23andMers587783978
23andMe allrs587783978
SNP Nexus

SNPshotrs587783978
SNPdbers587783978
MSV3drs587783978
GWAS Ctlgrs587783978
Max Magnitude0
ClinVar
Risk rs587783978(A;A)
Alt rs587783978(A;A)
Reference rs587783978(G;G)
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.37022401G>A
CLNSRC
CLNACC RCV000146648.1,