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rs587783933

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783933(G;T)
Make rs587783933(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37003348
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783933
ebirs587783933
HLIrs587783933
Exacrs587783933
Varsomers587783933
Maprs587783933
PheGenIrs587783933
hapmaprs587783933
1000 genomesrs587783933
hgdprs587783933
ensemblrs587783933
gopubmedrs587783933
geneviewrs587783933
scholarrs587783933
googlers587783933
pharmgkbrs587783933
gwascentralrs587783933
openSNPrs587783933
23andMers587783933
23andMe allrs587783933
SNP Nexus

SNPshotrs587783933
SNPdbers587783933
MSV3drs587783933
GWAS Ctlgrs587783933
Max Magnitude0
ClinVar
Risk rs587783933(T;T)
Alt rs587783933(T;T)
Reference rs587783933(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.37003450G>T
CLNSRC
CLNACC RCV000146590.1,