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rs587783921

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783921(A;A)
Make rs587783921(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37000508
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783921
ebirs587783921
HLIrs587783921
Exacrs587783921
Varsomers587783921
Maprs587783921
PheGenIrs587783921
hapmaprs587783921
1000 genomesrs587783921
hgdprs587783921
ensemblrs587783921
gopubmedrs587783921
geneviewrs587783921
scholarrs587783921
googlers587783921
pharmgkbrs587783921
gwascentralrs587783921
openSNPrs587783921
23andMers587783921
23andMe allrs587783921
SNP Nexus

SNPshotrs587783921
SNPdbers587783921
MSV3drs587783921
GWAS Ctlgrs587783921
Max Magnitude0
ClinVar
Risk rs587783921(A;A)
Alt rs587783921(A;A)
Reference rs587783921(G;G)
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.37000610G>A
CLNSRC
CLNACC RCV000146575.1,