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rs587783909

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783909(-;-)
Make rs587783909(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985891
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783909
ebirs587783909
HLIrs587783909
Exacrs587783909
Varsomers587783909
Maprs587783909
PheGenIrs587783909
hapmaprs587783909
1000 genomesrs587783909
hgdprs587783909
ensemblrs587783909
gopubmedrs587783909
geneviewrs587783909
scholarrs587783909
googlers587783909
pharmgkbrs587783909
gwascentralrs587783909
openSNPrs587783909
23andMers587783909
23andMe allrs587783909
SNP Nexus

SNPshotrs587783909
SNPdbers587783909
MSV3drs587783909
GWAS Ctlgrs587783909
Max Magnitude0
ClinVar
Risk rs587783909(;)
Alt rs587783909(;)
Reference rs587783909(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.36985993delG
CLNSRC
CLNACC RCV000146555.1,