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rs587783939

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783939(A;T)
Make rs587783939(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37007321
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783939
ebirs587783939
HLIrs587783939
Exacrs587783939
Varsomers587783939
Maprs587783939
PheGenIrs587783939
hapmaprs587783939
1000 genomesrs587783939
hgdprs587783939
ensemblrs587783939
gopubmedrs587783939
geneviewrs587783939
scholarrs587783939
googlers587783939
pharmgkbrs587783939
gwascentralrs587783939
openSNPrs587783939
23andMers587783939
23andMe allrs587783939
SNP Nexus

SNPshotrs587783939
SNPdbers587783939
MSV3drs587783939
GWAS Ctlgrs587783939
Max Magnitude0
ClinVar
Risk rs587783939(T;T)
Alt rs587783939(T;T)
Reference rs587783939(A;A)
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.37007423A>T
CLNSRC
CLNACC RCV000146598.1,