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rs587783910

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587783910(-;-)
Make rs587783910(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985953
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783910
ebirs587783910
HLIrs587783910
Exacrs587783910
Varsomers587783910
Maprs587783910
PheGenIrs587783910
hapmaprs587783910
1000 genomesrs587783910
hgdprs587783910
ensemblrs587783910
gopubmedrs587783910
geneviewrs587783910
scholarrs587783910
googlers587783910
pharmgkbrs587783910
gwascentralrs587783910
openSNPrs587783910
23andMers587783910
23andMe allrs587783910
SNP Nexus

SNPshotrs587783910
SNPdbers587783910
MSV3drs587783910
GWAS Ctlgrs587783910
Max Magnitude0
ClinVar
Risk rs587783910(;)
Alt rs587783910(;)
Reference rs587783910(AA;AA)
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.36986055_36986056delAA
CLNSRC
CLNACC RCV000146557.1,