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rs587783888

From SNPedia

Orientationplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs587783888(-;-)
Make rs587783888(-;GAAA)
Make rs587783888(GAAA;GAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36984694
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783888
ebirs587783888
HLIrs587783888
Exacrs587783888
Varsomers587783888
Maprs587783888
PheGenIrs587783888
hapmaprs587783888
1000 genomesrs587783888
hgdprs587783888
ensemblrs587783888
gopubmedrs587783888
geneviewrs587783888
scholarrs587783888
googlers587783888
pharmgkbrs587783888
gwascentralrs587783888
openSNPrs587783888
23andMers587783888
23andMe allrs587783888
SNP Nexus

SNPshotrs587783888
SNPdbers587783888
MSV3drs587783888
GWAS Ctlgrs587783888
Max Magnitude0
ClinVar
Risk rs587783888(;)
Alt rs587783888(;)
Reference rs587783888(AAAG;AAAG)
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.36984796_36984799delGAAA
CLNSRC
CLNACC RCV000146522.1,