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rs398124474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124474(C;T)
Make rs398124474(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37064854
GeneNIPBL
is asnp
is mentioned by
dbSNPrs398124474
ebirs398124474
HLIrs398124474
Exacrs398124474
Varsomers398124474
Maprs398124474
PheGenIrs398124474
hapmaprs398124474
1000 genomesrs398124474
hgdprs398124474
ensemblrs398124474
gopubmedrs398124474
geneviewrs398124474
scholarrs398124474
googlers398124474
pharmgkbrs398124474
gwascentralrs398124474
openSNPrs398124474
23andMers398124474
23andMe allrs398124474
SNP Nexus

SNPshotrs398124474
SNPdbers398124474
MSV3drs398124474
GWAS Ctlgrs398124474
Max Magnitude0
ClinVar
Risk rs398124474(T;T)
Alt rs398124474(T;T)
Reference rs398124474(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.37064956C>T
CLNSRC HGMD
CLNACC RCV000082504.3, RCV000146743.2,