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rs587783922

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783922(A;G)
Make rs587783922(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36958218
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783922
ebirs587783922
HLIrs587783922
Exacrs587783922
Varsomers587783922
Maprs587783922
PheGenIrs587783922
hapmaprs587783922
1000 genomesrs587783922
hgdprs587783922
ensemblrs587783922
gopubmedrs587783922
geneviewrs587783922
scholarrs587783922
googlers587783922
pharmgkbrs587783922
gwascentralrs587783922
openSNPrs587783922
23andMers587783922
23andMe allrs587783922
SNP Nexus

SNPshotrs587783922
SNPdbers587783922
MSV3drs587783922
GWAS Ctlgrs587783922
Max Magnitude0
ClinVar
Risk rs587783922(G;G)
Alt rs587783922(G;G)
Reference rs587783922(A;A)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36958320A>G
CLNSRC
CLNACC RCV000146576.2,