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rs587783954

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783954(C;C)
Make rs587783954(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37014766
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783954
ebirs587783954
HLIrs587783954
Exacrs587783954
Varsomers587783954
Maprs587783954
PheGenIrs587783954
hapmaprs587783954
1000 genomesrs587783954
hgdprs587783954
ensemblrs587783954
gopubmedrs587783954
geneviewrs587783954
scholarrs587783954
googlers587783954
pharmgkbrs587783954
gwascentralrs587783954
openSNPrs587783954
23andMers587783954
23andMe allrs587783954
SNP Nexus

SNPshotrs587783954
SNPdbers587783954
MSV3drs587783954
GWAS Ctlgrs587783954
Max Magnitude0
ClinVar
Risk rs587783954(C;C)
Alt rs587783954(C;C)
Reference rs587783954(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.37014868G>C
CLNSRC
CLNACC RCV000146616.1,