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

rs587783993

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783993(A;A)
Make rs587783993(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36962275
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783993
ebirs587783993
HLIrs587783993
Exacrs587783993
Varsomers587783993
Maprs587783993
PheGenIrs587783993
hapmaprs587783993
1000 genomesrs587783993
hgdprs587783993
ensemblrs587783993
gopubmedrs587783993
geneviewrs587783993
scholarrs587783993
googlers587783993
pharmgkbrs587783993
gwascentralrs587783993
openSNPrs587783993
23andMers587783993
23andMe allrs587783993
SNP Nexus

SNPshotrs587783993
SNPdbers587783993
MSV3drs587783993
GWAS Ctlgrs587783993
Max Magnitude0
ClinVar
Risk rs587783993(A;A)
Alt rs587783993(A;A)
Reference rs587783993(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.36962377G>A
CLNSRC
CLNACC RCV000146666.1,