Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783950

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783950(G;T)
Make rs587783950(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37010208
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783950
ebirs587783950
HLIrs587783950
Exacrs587783950
Varsomers587783950
Maprs587783950
PheGenIrs587783950
hapmaprs587783950
1000 genomesrs587783950
hgdprs587783950
ensemblrs587783950
gopubmedrs587783950
geneviewrs587783950
scholarrs587783950
googlers587783950
pharmgkbrs587783950
gwascentralrs587783950
openSNPrs587783950
23andMers587783950
23andMe allrs587783950
SNP Nexus

SNPshotrs587783950
SNPdbers587783950
MSV3drs587783950
GWAS Ctlgrs587783950
Max Magnitude0
ClinVar
Risk rs587783950(T;T)
Alt rs587783950(T;T)
Reference rs587783950(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.37010310G>T
CLNSRC
CLNACC RCV000146611.1,