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rs587783942

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783942(C;C)
Make rs587783942(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37008007
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783942
ebirs587783942
HLIrs587783942
Exacrs587783942
Varsomers587783942
Maprs587783942
PheGenIrs587783942
hapmaprs587783942
1000 genomesrs587783942
hgdprs587783942
ensemblrs587783942
gopubmedrs587783942
geneviewrs587783942
scholarrs587783942
googlers587783942
pharmgkbrs587783942
gwascentralrs587783942
openSNPrs587783942
23andMers587783942
23andMe allrs587783942
SNP Nexus

SNPshotrs587783942
SNPdbers587783942
MSV3drs587783942
GWAS Ctlgrs587783942
Max Magnitude0
ClinVar
Risk rs587783942(C;C)
Alt rs587783942(C;C)
Reference Rs587783942(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.37008109G>C
CLNSRC
CLNACC RCV000146602.1,