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rs587783969

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783969(C;C)
Make rs587783969(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022050
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783969
ebirs587783969
HLIrs587783969
Exacrs587783969
Varsomers587783969
Maprs587783969
PheGenIrs587783969
hapmaprs587783969
1000 genomesrs587783969
hgdprs587783969
ensemblrs587783969
gopubmedrs587783969
geneviewrs587783969
scholarrs587783969
googlers587783969
pharmgkbrs587783969
gwascentralrs587783969
openSNPrs587783969
23andMers587783969
23andMe allrs587783969
SNP Nexus

SNPshotrs587783969
SNPdbers587783969
MSV3drs587783969
GWAS Ctlgrs587783969
Max Magnitude0
ClinVar
Risk rs587783969(C;C)
Alt rs587783969(C;C)
Reference rs587783969(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.37022152G>C
CLNSRC
CLNACC RCV000146636.1,