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rs587784029

From SNPedia

Orientationplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs587784029(-;-)
Make rs587784029(-;GG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37051835
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784029
ebirs587784029
HLIrs587784029
Exacrs587784029
Varsomers587784029
Maprs587784029
PheGenIrs587784029
hapmaprs587784029
1000 genomesrs587784029
hgdprs587784029
ensemblrs587784029
gopubmedrs587784029
geneviewrs587784029
scholarrs587784029
googlers587784029
pharmgkbrs587784029
gwascentralrs587784029
openSNPrs587784029
23andMers587784029
23andMe allrs587784029
SNP Nexus

SNPshotrs587784029
SNPdbers587784029
MSV3drs587784029
GWAS Ctlgrs587784029
Max Magnitude0
ClinVar
Risk rs587784029(;)
Alt rs587784029(;)
Reference rs587784029(GG;GG)
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.37051937_37051938delGG
CLNSRC
CLNACC RCV000146710.1,