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rs587783906

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783906(C;T)
Make rs587783906(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985674
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783906
ebirs587783906
HLIrs587783906
Exacrs587783906
Varsomers587783906
Maprs587783906
PheGenIrs587783906
hapmaprs587783906
1000 genomesrs587783906
hgdprs587783906
ensemblrs587783906
gopubmedrs587783906
geneviewrs587783906
scholarrs587783906
googlers587783906
pharmgkbrs587783906
gwascentralrs587783906
openSNPrs587783906
23andMers587783906
23andMe allrs587783906
SNP Nexus

SNPshotrs587783906
SNPdbers587783906
MSV3drs587783906
GWAS Ctlgrs587783906
Max Magnitude0
ClinVar
Risk rs587783906(T;T)
Alt rs587783906(T;T)
Reference rs587783906(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.36985776C>T
CLNSRC
CLNACC RCV000146549.1,