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rs587783938

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783938(A;A)
Make rs587783938(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37006518
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783938
ebirs587783938
HLIrs587783938
Exacrs587783938
Varsomers587783938
Maprs587783938
PheGenIrs587783938
hapmaprs587783938
1000 genomesrs587783938
hgdprs587783938
ensemblrs587783938
gopubmedrs587783938
geneviewrs587783938
scholarrs587783938
googlers587783938
pharmgkbrs587783938
gwascentralrs587783938
openSNPrs587783938
23andMers587783938
23andMe allrs587783938
SNP Nexus

SNPshotrs587783938
SNPdbers587783938
MSV3drs587783938
GWAS Ctlgrs587783938
Max Magnitude0
ClinVar
Risk rs587783938(A;A)
Alt rs587783938(A;A)
Reference rs587783938(C;C)
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.37006620C>A
CLNSRC
CLNACC RCV000146597.1,