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rs587783907

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783907(C;T)
Make rs587783907(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985680
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783907
ebirs587783907
HLIrs587783907
Exacrs587783907
Varsomers587783907
Maprs587783907
PheGenIrs587783907
hapmaprs587783907
1000 genomesrs587783907
hgdprs587783907
ensemblrs587783907
gopubmedrs587783907
geneviewrs587783907
scholarrs587783907
googlers587783907
pharmgkbrs587783907
gwascentralrs587783907
openSNPrs587783907
23andMers587783907
23andMe allrs587783907
SNP Nexus

SNPshotrs587783907
SNPdbers587783907
MSV3drs587783907
GWAS Ctlgrs587783907
Max Magnitude0
ClinVar
Risk rs587783907(T;T)
Alt rs587783907(T;T)
Reference rs587783907(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.36985782C>T
CLNSRC
CLNACC RCV000146550.1,