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rs587783883

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783883(C;T)
Make rs587783883(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36976204
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783883
ebirs587783883
HLIrs587783883
Exacrs587783883
Varsomers587783883
Maprs587783883
PheGenIrs587783883
hapmaprs587783883
1000 genomesrs587783883
hgdprs587783883
ensemblrs587783883
gopubmedrs587783883
geneviewrs587783883
scholarrs587783883
googlers587783883
pharmgkbrs587783883
gwascentralrs587783883
openSNPrs587783883
23andMers587783883
23andMe allrs587783883
SNP Nexus

SNPshotrs587783883
SNPdbers587783883
MSV3drs587783883
GWAS Ctlgrs587783883
Max Magnitude0
ClinVar
Risk rs587783883(T;T)
Alt rs587783883(T;T)
Reference rs587783883(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.36976306C>T
CLNSRC
CLNACC RCV000146517.1,