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rs587783928

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783928(C;C)
Make rs587783928(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36958236
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783928
ebirs587783928
HLIrs587783928
Exacrs587783928
Varsomers587783928
Maprs587783928
PheGenIrs587783928
hapmaprs587783928
1000 genomesrs587783928
hgdprs587783928
ensemblrs587783928
gopubmedrs587783928
geneviewrs587783928
scholarrs587783928
googlers587783928
pharmgkbrs587783928
gwascentralrs587783928
openSNPrs587783928
23andMers587783928
23andMe allrs587783928
SNP Nexus

SNPshotrs587783928
SNPdbers587783928
MSV3drs587783928
GWAS Ctlgrs587783928
Max Magnitude0
ClinVar
Risk rs587783928(C;C)
Alt rs587783928(C;C)
Reference rs587783928(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.36958338G>C
CLNSRC
CLNACC RCV000146583.1,