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rs587783895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783895(C;C)
Make rs587783895(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36955613
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783895
dbSNP (old)rs587783895
ClinGenrs587783895
ebirs587783895
HLIrs587783895
Exacrs587783895
Gnomadrs587783895
Varsomers587783895
Maprs587783895
PheGenIrs587783895
Biobankrs587783895
1000 genomesrs587783895
hgdprs587783895
ensemblrs587783895
gopubmedrs587783895
geneviewrs587783895
scholarrs587783895
googlers587783895
pharmgkbrs587783895
gwascentralrs587783895
openSNPrs587783895
23andMers587783895
23andMe allrs587783895
SNP Nexus

SNPshotrs587783895
SNPdbers587783895
MSV3drs587783895
GWAS Ctlgrs587783895
Max Magnitude0
ClinVar
Risk rs587783895(C;C)
Alt rs587783895(C;C)
Reference Rs587783895(T;T)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36955715T>C
CLNSRC
CLNACC RCV000146534.1,