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rs587783988

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783988(C;T)
Make rs587783988(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36962262
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783988
ebirs587783988
HLIrs587783988
Exacrs587783988
Varsomers587783988
Maprs587783988
PheGenIrs587783988
hapmaprs587783988
1000 genomesrs587783988
hgdprs587783988
ensemblrs587783988
gopubmedrs587783988
geneviewrs587783988
scholarrs587783988
googlers587783988
pharmgkbrs587783988
gwascentralrs587783988
openSNPrs587783988
23andMers587783988
23andMe allrs587783988
SNP Nexus

SNPshotrs587783988
SNPdbers587783988
MSV3drs587783988
GWAS Ctlgrs587783988
Max Magnitude0
ClinVar
Risk rs587783988(G,T;G,T)
Alt rs587783988(G,T;G,T)
Reference rs587783988(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.36962364C>T
CLNSRC
CLNACC RCV000146661.1,