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rs587783934

From SNPedia

Orientationplus
Geno Mag Summary
(ACTG;ACTG) 0 common in clinvar
Make rs587783934(-;-)
Make rs587783934(-;CTGA)
Make rs587783934(CTGA;CTGA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37006367
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783934
ebirs587783934
HLIrs587783934
Exacrs587783934
Varsomers587783934
Maprs587783934
PheGenIrs587783934
hapmaprs587783934
1000 genomesrs587783934
hgdprs587783934
ensemblrs587783934
gopubmedrs587783934
geneviewrs587783934
scholarrs587783934
googlers587783934
pharmgkbrs587783934
gwascentralrs587783934
openSNPrs587783934
23andMers587783934
23andMe allrs587783934
SNP Nexus

SNPshotrs587783934
SNPdbers587783934
MSV3drs587783934
GWAS Ctlgrs587783934
Max Magnitude0
ClinVar
Risk rs587783934(;)
Alt rs587783934(;)
Reference rs587783934(ACTG;ACTG)
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.37006469_37006472delCTGA
CLNSRC
CLNACC RCV000146593.1,