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

rs587783986

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783986(G;T)
Make rs587783986(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37036439
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783986
ebirs587783986
HLIrs587783986
Exacrs587783986
Varsomers587783986
Maprs587783986
PheGenIrs587783986
hapmaprs587783986
1000 genomesrs587783986
hgdprs587783986
ensemblrs587783986
gopubmedrs587783986
geneviewrs587783986
scholarrs587783986
googlers587783986
pharmgkbrs587783986
gwascentralrs587783986
openSNPrs587783986
23andMers587783986
23andMe allrs587783986
SNP Nexus

SNPshotrs587783986
SNPdbers587783986
MSV3drs587783986
GWAS Ctlgrs587783986
Max Magnitude0
ClinVar
Risk rs587783986(T;T)
Alt rs587783986(T;T)
Reference rs587783986(G;G)
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.37036541G>T
CLNSRC
CLNACC RCV000146657.1,