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rs587783972

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783972(C;T)
Make rs587783972(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022087
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783972
ebirs587783972
HLIrs587783972
Exacrs587783972
Varsomers587783972
Maprs587783972
PheGenIrs587783972
hapmaprs587783972
1000 genomesrs587783972
hgdprs587783972
ensemblrs587783972
gopubmedrs587783972
geneviewrs587783972
scholarrs587783972
googlers587783972
pharmgkbrs587783972
gwascentralrs587783972
openSNPrs587783972
23andMers587783972
23andMe allrs587783972
SNP Nexus

SNPshotrs587783972
SNPdbers587783972
MSV3drs587783972
GWAS Ctlgrs587783972
Max Magnitude0
ClinVar
Risk rs587783972(T;T)
Alt rs587783972(T;T)
Reference rs587783972(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.37022189C>T
CLNSRC
CLNACC RCV000146641.1,