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rs398124466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124466(C;T)
Make rs398124466(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position36985782
GeneNIPBL
is asnp
is mentioned by
dbSNPrs398124466
ebirs398124466
HLIrs398124466
Exacrs398124466
Varsomers398124466
Maprs398124466
PheGenIrs398124466
hapmaprs398124466
1000 genomesrs398124466
hgdprs398124466
ensemblrs398124466
gopubmedrs398124466
geneviewrs398124466
scholarrs398124466
googlers398124466
pharmgkbrs398124466
gwascentralrs398124466
openSNPrs398124466
23andMers398124466
23andMe allrs398124466
SNP Nexus

SNPshotrs398124466
SNPdbers398124466
MSV3drs398124466
GWAS Ctlgrs398124466
Max Magnitude0
ClinVar
Risk rs398124466(T;T)
Alt rs398124466(T;T)
Reference rs398124466(C;C)
Significance Pathogenic
Disease not provided Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN not provided Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36985884C>T
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000082486.3, RCV000146553.2,