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rs587783899

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783899(C;T)
Make rs587783899(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985440
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783899
ebirs587783899
HLIrs587783899
Exacrs587783899
Varsomers587783899
Maprs587783899
PheGenIrs587783899
hapmaprs587783899
1000 genomesrs587783899
hgdprs587783899
ensemblrs587783899
gopubmedrs587783899
geneviewrs587783899
scholarrs587783899
googlers587783899
pharmgkbrs587783899
gwascentralrs587783899
openSNPrs587783899
23andMers587783899
23andMe allrs587783899
SNP Nexus

SNPshotrs587783899
SNPdbers587783899
MSV3drs587783899
GWAS Ctlgrs587783899
Max Magnitude0
ClinVar
Risk rs587783899(T;T)
Alt rs587783899(T;T)
Reference rs587783899(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.36985542C>T
CLNSRC
CLNACC RCV000146539.1,