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rs587783887

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783887(A;G)
Make rs587783887(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36976384
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783887
ebirs587783887
HLIrs587783887
Exacrs587783887
Varsomers587783887
Maprs587783887
PheGenIrs587783887
hapmaprs587783887
1000 genomesrs587783887
hgdprs587783887
ensemblrs587783887
gopubmedrs587783887
geneviewrs587783887
scholarrs587783887
googlers587783887
pharmgkbrs587783887
gwascentralrs587783887
openSNPrs587783887
23andMers587783887
23andMe allrs587783887
SNP Nexus

SNPshotrs587783887
SNPdbers587783887
MSV3drs587783887
GWAS Ctlgrs587783887
Max Magnitude0
ClinVar
Risk rs587783887(G;G)
Alt rs587783887(G;G)
Reference rs587783887(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.36976486A>G
CLNSRC
CLNACC RCV000146521.1,