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rs587783953

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783953(-;-)
Make rs587783953(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37014758
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783953
ebirs587783953
HLIrs587783953
Exacrs587783953
Varsomers587783953
Maprs587783953
PheGenIrs587783953
hapmaprs587783953
1000 genomesrs587783953
hgdprs587783953
ensemblrs587783953
gopubmedrs587783953
geneviewrs587783953
scholarrs587783953
googlers587783953
pharmgkbrs587783953
gwascentralrs587783953
openSNPrs587783953
23andMers587783953
23andMe allrs587783953
SNP Nexus

SNPshotrs587783953
SNPdbers587783953
MSV3drs587783953
GWAS Ctlgrs587783953
Max Magnitude0
ClinVar
Risk rs587783953(;)
Alt rs587783953(;)
Reference rs587783953(C;C)
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.37014860delC
CLNSRC
CLNACC RCV000146615.1,