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rs587784049

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784049(A;A)
Make rs587784049(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36971944
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784049
ebirs587784049
HLIrs587784049
Exacrs587784049
Varsomers587784049
Maprs587784049
PheGenIrs587784049
hapmaprs587784049
1000 genomesrs587784049
hgdprs587784049
ensemblrs587784049
gopubmedrs587784049
geneviewrs587784049
scholarrs587784049
googlers587784049
pharmgkbrs587784049
gwascentralrs587784049
openSNPrs587784049
23andMers587784049
23andMe allrs587784049
SNP Nexus

SNPshotrs587784049
SNPdbers587784049
MSV3drs587784049
GWAS Ctlgrs587784049
Max Magnitude0
ClinVar
Risk rs587784049(A;A)
Alt rs587784049(A;A)
Reference rs587784049(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.36972046G>A
CLNSRC
CLNACC RCV000146731.1,