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rs587783960

From SNPedia

Orientationplus
Geno Mag Summary
(GCCCAGT;GCCCAGT) 0 common in clinvar
Make rs587783960(-;-)
Make rs587783960(-;CCCAGTG)
Make rs587783960(CCCAGTG;CCCAGTG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37020481
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783960
ebirs587783960
HLIrs587783960
Exacrs587783960
Varsomers587783960
Maprs587783960
PheGenIrs587783960
hapmaprs587783960
1000 genomesrs587783960
hgdprs587783960
ensemblrs587783960
gopubmedrs587783960
geneviewrs587783960
scholarrs587783960
googlers587783960
pharmgkbrs587783960
gwascentralrs587783960
openSNPrs587783960
23andMers587783960
23andMe allrs587783960
SNP Nexus

SNPshotrs587783960
SNPdbers587783960
MSV3drs587783960
GWAS Ctlgrs587783960
Max Magnitude0
ClinVar
Risk rs587783960(;)
Alt rs587783960(;)
Reference rs587783960(GCCCAGT;GCCCAGT)
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.37020583_37020589delCCCAGTG
CLNSRC
CLNACC RCV000146627.1,