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rs587783919

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783919(A;T)
Make rs587783919(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37000390
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783919
ebirs587783919
HLIrs587783919
Exacrs587783919
Varsomers587783919
Maprs587783919
PheGenIrs587783919
hapmaprs587783919
1000 genomesrs587783919
hgdprs587783919
ensemblrs587783919
gopubmedrs587783919
geneviewrs587783919
scholarrs587783919
googlers587783919
pharmgkbrs587783919
gwascentralrs587783919
openSNPrs587783919
23andMers587783919
23andMe allrs587783919
SNP Nexus

SNPshotrs587783919
SNPdbers587783919
MSV3drs587783919
GWAS Ctlgrs587783919
Max Magnitude0
ClinVar
Risk rs587783919(T;T)
Alt rs587783919(T;T)
Reference rs587783919(A;A)
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.37000492A>T
CLNSRC
CLNACC RCV000146571.1,