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rs587783886

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783886(G;T)
Make rs587783886(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36955552
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783886
ebirs587783886
HLIrs587783886
Exacrs587783886
Varsomers587783886
Maprs587783886
PheGenIrs587783886
hapmaprs587783886
1000 genomesrs587783886
hgdprs587783886
ensemblrs587783886
gopubmedrs587783886
geneviewrs587783886
scholarrs587783886
googlers587783886
pharmgkbrs587783886
gwascentralrs587783886
openSNPrs587783886
23andMers587783886
23andMe allrs587783886
SNP Nexus

SNPshotrs587783886
SNPdbers587783886
MSV3drs587783886
GWAS Ctlgrs587783886
Max Magnitude0
ClinVar
Risk rs587783886(T;T)
Alt rs587783886(T;T)
Reference rs587783886(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.36955654G>T
CLNSRC
CLNACC RCV000146520.1,