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rs587783985

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783985(A;A)
Make rs587783985(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37027413
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783985
ebirs587783985
HLIrs587783985
Exacrs587783985
Varsomers587783985
Maprs587783985
PheGenIrs587783985
hapmaprs587783985
1000 genomesrs587783985
hgdprs587783985
ensemblrs587783985
gopubmedrs587783985
geneviewrs587783985
scholarrs587783985
googlers587783985
pharmgkbrs587783985
gwascentralrs587783985
openSNPrs587783985
23andMers587783985
23andMe allrs587783985
SNP Nexus

SNPshotrs587783985
SNPdbers587783985
MSV3drs587783985
GWAS Ctlgrs587783985
Max Magnitude0
ClinVar
Risk rs587783985(A;A)
Alt rs587783985(A;A)
Reference rs587783985(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.37027515G>A
CLNSRC
CLNACC RCV000146656.1,