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rs587783982

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783982(A;C)
Make rs587783982(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37026251
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783982
ebirs587783982
HLIrs587783982
Exacrs587783982
Varsomers587783982
Maprs587783982
PheGenIrs587783982
hapmaprs587783982
1000 genomesrs587783982
hgdprs587783982
ensemblrs587783982
gopubmedrs587783982
geneviewrs587783982
scholarrs587783982
googlers587783982
pharmgkbrs587783982
gwascentralrs587783982
openSNPrs587783982
23andMers587783982
23andMe allrs587783982
SNP Nexus

SNPshotrs587783982
SNPdbers587783982
MSV3drs587783982
GWAS Ctlgrs587783982
Max Magnitude0
ClinVar
Risk rs587783982(C;C)
Alt rs587783982(C;C)
Reference Rs587783982(A;A)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37026353A>C
CLNSRC
CLNACC RCV000146653.1,