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rs587783901

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783901(C;T)
Make rs587783901(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985569
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783901
ebirs587783901
HLIrs587783901
Exacrs587783901
Varsomers587783901
Maprs587783901
PheGenIrs587783901
hapmaprs587783901
1000 genomesrs587783901
hgdprs587783901
ensemblrs587783901
gopubmedrs587783901
geneviewrs587783901
scholarrs587783901
googlers587783901
pharmgkbrs587783901
gwascentralrs587783901
openSNPrs587783901
23andMers587783901
23andMe allrs587783901
SNP Nexus

SNPshotrs587783901
SNPdbers587783901
MSV3drs587783901
GWAS Ctlgrs587783901
Max Magnitude0
ClinVar
Risk rs587783901(T;T)
Alt rs587783901(T;T)
Reference rs587783901(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.36985671C>T
CLNSRC
CLNACC RCV000146542.1,