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rs587783945

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783945(A;A)
Make rs587783945(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37008089
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783945
ebirs587783945
HLIrs587783945
Exacrs587783945
Varsomers587783945
Maprs587783945
PheGenIrs587783945
hapmaprs587783945
1000 genomesrs587783945
hgdprs587783945
ensemblrs587783945
gopubmedrs587783945
geneviewrs587783945
scholarrs587783945
googlers587783945
pharmgkbrs587783945
gwascentralrs587783945
openSNPrs587783945
23andMers587783945
23andMe allrs587783945
SNP Nexus

SNPshotrs587783945
SNPdbers587783945
MSV3drs587783945
GWAS Ctlgrs587783945
Max Magnitude0
ClinVar
Risk rs587783945(A;A)
Alt rs587783945(A;A)
Reference rs587783945(G;G)
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.37008191G>A
CLNSRC
CLNACC RCV000146606.1,