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rs398124470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124470(G;G)
Make rs398124470(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37051871
GeneNIPBL
is asnp
is mentioned by
dbSNPrs398124470
ebirs398124470
HLIrs398124470
Exacrs398124470
Varsomers398124470
Maprs398124470
PheGenIrs398124470
hapmaprs398124470
1000 genomesrs398124470
hgdprs398124470
ensemblrs398124470
gopubmedrs398124470
geneviewrs398124470
scholarrs398124470
googlers398124470
pharmgkbrs398124470
gwascentralrs398124470
openSNPrs398124470
23andMers398124470
23andMe allrs398124470
SNP Nexus

SNPshotrs398124470
SNPdbers398124470
MSV3drs398124470
GWAS Ctlgrs398124470
Max Magnitude0
ClinVar
Risk rs398124470(C,G;C,G)
Alt rs398124470(C,G;C,G)
Reference rs398124470(T;T)
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.37051973T>G
CLNSRC ClinVar Emory University
CLNACC RCV000082500.4,