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rs587783941

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783941(-;-)
Make rs587783941(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37007378
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783941
ebirs587783941
HLIrs587783941
Exacrs587783941
Varsomers587783941
Maprs587783941
PheGenIrs587783941
hapmaprs587783941
1000 genomesrs587783941
hgdprs587783941
ensemblrs587783941
gopubmedrs587783941
geneviewrs587783941
scholarrs587783941
googlers587783941
pharmgkbrs587783941
gwascentralrs587783941
openSNPrs587783941
23andMers587783941
23andMe allrs587783941
SNP Nexus

SNPshotrs587783941
SNPdbers587783941
MSV3drs587783941
GWAS Ctlgrs587783941
Max Magnitude0
ClinVar
Risk rs587783941(;)
Alt rs587783941(;)
Reference rs587783941(AG;AG)
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.37007480_37007481delAG
CLNSRC
CLNACC RCV000146600.1,