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rs587783984

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783984(A;A)
Make rs587783984(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37026328
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783984
ebirs587783984
HLIrs587783984
Exacrs587783984
Varsomers587783984
Maprs587783984
PheGenIrs587783984
hapmaprs587783984
1000 genomesrs587783984
hgdprs587783984
ensemblrs587783984
gopubmedrs587783984
geneviewrs587783984
scholarrs587783984
googlers587783984
pharmgkbrs587783984
gwascentralrs587783984
openSNPrs587783984
23andMers587783984
23andMe allrs587783984
SNP Nexus

SNPshotrs587783984
SNPdbers587783984
MSV3drs587783984
GWAS Ctlgrs587783984
Max Magnitude0
ClinVar
Risk rs587783984(A;A)
Alt rs587783984(A;A)
Reference rs587783984(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.37026430G>A
CLNSRC
CLNACC RCV000146655.1,