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rs587784048

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784048(A;A)
Make rs587784048(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36971037
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784048
ebirs587784048
HLIrs587784048
Exacrs587784048
Varsomers587784048
Maprs587784048
PheGenIrs587784048
hapmaprs587784048
1000 genomesrs587784048
hgdprs587784048
ensemblrs587784048
gopubmedrs587784048
geneviewrs587784048
scholarrs587784048
googlers587784048
pharmgkbrs587784048
gwascentralrs587784048
openSNPrs587784048
23andMers587784048
23andMe allrs587784048
SNP Nexus

SNPshotrs587784048
SNPdbers587784048
MSV3drs587784048
GWAS Ctlgrs587784048
Max Magnitude0
ClinVar
Risk rs587784048(A;A)
Alt rs587784048(A;A)
Reference rs587784048(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.36971139G>A
CLNSRC
CLNACC RCV000146730.2,