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rs587783897

From SNPedia

Orientationplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs587783897(-;-)
Make rs587783897(-;CC)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985287
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783897
ebirs587783897
HLIrs587783897
Exacrs587783897
Varsomers587783897
Maprs587783897
PheGenIrs587783897
hapmaprs587783897
1000 genomesrs587783897
hgdprs587783897
ensemblrs587783897
gopubmedrs587783897
geneviewrs587783897
scholarrs587783897
googlers587783897
pharmgkbrs587783897
gwascentralrs587783897
openSNPrs587783897
23andMers587783897
23andMe allrs587783897
SNP Nexus

SNPshotrs587783897
SNPdbers587783897
MSV3drs587783897
GWAS Ctlgrs587783897
Max Magnitude0
ClinVar
Risk rs587783897(;)
Alt rs587783897(;)
Reference rs587783897(CC;CC)
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.36985389_36985390delCC
CLNSRC
CLNACC RCV000146536.1,