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rs587783905

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783905(C;G)
Make rs587783905(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985669
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783905
ebirs587783905
HLIrs587783905
Exacrs587783905
Varsomers587783905
Maprs587783905
PheGenIrs587783905
hapmaprs587783905
1000 genomesrs587783905
hgdprs587783905
ensemblrs587783905
gopubmedrs587783905
geneviewrs587783905
scholarrs587783905
googlers587783905
pharmgkbrs587783905
gwascentralrs587783905
openSNPrs587783905
23andMers587783905
23andMe allrs587783905
SNP Nexus

SNPshotrs587783905
SNPdbers587783905
MSV3drs587783905
GWAS Ctlgrs587783905
Max Magnitude0
ClinVar
Risk rs587783905(G,T;G,T)
Alt rs587783905(G,T;G,T)
Reference rs587783905(C;C)
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.36985771C>G
CLNSRC
CLNACC RCV000146548.1,