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rs398124471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124471(C;T)
Make rs398124471(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37052522
GeneNIPBL
is asnp
is mentioned by
dbSNPrs398124471
ebirs398124471
HLIrs398124471
Exacrs398124471
Varsomers398124471
Maprs398124471
PheGenIrs398124471
hapmaprs398124471
1000 genomesrs398124471
hgdprs398124471
ensemblrs398124471
gopubmedrs398124471
geneviewrs398124471
scholarrs398124471
googlers398124471
pharmgkbrs398124471
gwascentralrs398124471
openSNPrs398124471
23andMers398124471
23andMe allrs398124471
SNP Nexus

SNPshotrs398124471
SNPdbers398124471
MSV3drs398124471
GWAS Ctlgrs398124471
Max Magnitude0
ClinVar
Risk rs398124471(T;T)
Alt rs398124471(T;T)
Reference rs398124471(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.37052624C>T
CLNSRC HGMD
CLNACC RCV000082501.3, RCV000146719.2,