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rs587783955

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783955(-;-)
Make rs587783955(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37016057
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783955
ebirs587783955
HLIrs587783955
Exacrs587783955
Varsomers587783955
Maprs587783955
PheGenIrs587783955
hapmaprs587783955
1000 genomesrs587783955
hgdprs587783955
ensemblrs587783955
gopubmedrs587783955
geneviewrs587783955
scholarrs587783955
googlers587783955
pharmgkbrs587783955
gwascentralrs587783955
openSNPrs587783955
23andMers587783955
23andMe allrs587783955
SNP Nexus

SNPshotrs587783955
SNPdbers587783955
MSV3drs587783955
GWAS Ctlgrs587783955
Max Magnitude0
ClinVar
Risk rs587783955(;)
Alt rs587783955(;)
Reference rs587783955(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.37016159delG
CLNSRC
CLNACC RCV000146617.1,