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rs587783967

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783967(A;A)
Make rs587783967(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37020878
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783967
ebirs587783967
HLIrs587783967
Exacrs587783967
Varsomers587783967
Maprs587783967
PheGenIrs587783967
hapmaprs587783967
1000 genomesrs587783967
hgdprs587783967
ensemblrs587783967
gopubmedrs587783967
geneviewrs587783967
scholarrs587783967
googlers587783967
pharmgkbrs587783967
gwascentralrs587783967
openSNPrs587783967
23andMers587783967
23andMe allrs587783967
SNP Nexus

SNPshotrs587783967
SNPdbers587783967
MSV3drs587783967
GWAS Ctlgrs587783967
Max Magnitude0
ClinVar
Risk rs587783967(A;A)
Alt rs587783967(A;A)
Reference rs587783967(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.37020980G>A
CLNSRC
CLNACC RCV000146634.1,