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

rs587783974

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783974(A;G)
Make rs587783974(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37022242
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783974
ebirs587783974
HLIrs587783974
Exacrs587783974
Varsomers587783974
Maprs587783974
PheGenIrs587783974
hapmaprs587783974
1000 genomesrs587783974
hgdprs587783974
ensemblrs587783974
gopubmedrs587783974
geneviewrs587783974
scholarrs587783974
googlers587783974
pharmgkbrs587783974
gwascentralrs587783974
openSNPrs587783974
23andMers587783974
23andMe allrs587783974
SNP Nexus

SNPshotrs587783974
SNPdbers587783974
MSV3drs587783974
GWAS Ctlgrs587783974
Max Magnitude0
ClinVar
Risk rs587783974(G;G)
Alt rs587783974(G;G)
Reference rs587783974(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.37022344A>G
CLNSRC
CLNACC RCV000146643.1,