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rs587783937

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783937(G;T)
Make rs587783937(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36953699
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783937
ebirs587783937
HLIrs587783937
Exacrs587783937
Varsomers587783937
Maprs587783937
PheGenIrs587783937
hapmaprs587783937
1000 genomesrs587783937
hgdprs587783937
ensemblrs587783937
gopubmedrs587783937
geneviewrs587783937
scholarrs587783937
googlers587783937
pharmgkbrs587783937
gwascentralrs587783937
openSNPrs587783937
23andMers587783937
23andMe allrs587783937
SNP Nexus

SNPshotrs587783937
SNPdbers587783937
MSV3drs587783937
GWAS Ctlgrs587783937
Max Magnitude0
ClinVar
Risk rs587783937(T;T)
Alt rs587783937(T;T)
Reference rs587783937(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.36953801G>T
CLNSRC
CLNACC RCV000146596.1,