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rs587783951

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783951(-;-)
Make rs587783951(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36961581
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783951
ebirs587783951
HLIrs587783951
Exacrs587783951
Varsomers587783951
Maprs587783951
PheGenIrs587783951
hapmaprs587783951
1000 genomesrs587783951
hgdprs587783951
ensemblrs587783951
gopubmedrs587783951
geneviewrs587783951
scholarrs587783951
googlers587783951
pharmgkbrs587783951
gwascentralrs587783951
openSNPrs587783951
23andMers587783951
23andMe allrs587783951
SNP Nexus

SNPshotrs587783951
SNPdbers587783951
MSV3drs587783951
GWAS Ctlgrs587783951
Max Magnitude0
ClinVar
Risk rs587783951(;)
Alt rs587783951(;)
Reference rs587783951(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.36961683delC
CLNSRC
CLNACC RCV000146613.1,