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rs587783979

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783979(A;A)
Make rs587783979(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37024720
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783979
ebirs587783979
HLIrs587783979
Exacrs587783979
Varsomers587783979
Maprs587783979
PheGenIrs587783979
hapmaprs587783979
1000 genomesrs587783979
hgdprs587783979
ensemblrs587783979
gopubmedrs587783979
geneviewrs587783979
scholarrs587783979
googlers587783979
pharmgkbrs587783979
gwascentralrs587783979
openSNPrs587783979
23andMers587783979
23andMe allrs587783979
SNP Nexus

SNPshotrs587783979
SNPdbers587783979
MSV3drs587783979
GWAS Ctlgrs587783979
Max Magnitude0
ClinVar
Risk rs587783979(A;A)
Alt rs587783979(A;A)
Reference rs587783979(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.37024822G>A
CLNSRC
CLNACC RCV000146650.1,