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rs398124467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124467(-;-)
Make rs398124467(-;G)
Make rs398124467(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position36985806
GeneNIPBL
is asnp
is mentioned by
dbSNPrs398124467
ebirs398124467
HLIrs398124467
Exacrs398124467
Varsomers398124467
Maprs398124467
PheGenIrs398124467
hapmaprs398124467
1000 genomesrs398124467
hgdprs398124467
ensemblrs398124467
gopubmedrs398124467
geneviewrs398124467
scholarrs398124467
googlers398124467
pharmgkbrs398124467
gwascentralrs398124467
openSNPrs398124467
23andMers398124467
23andMe allrs398124467
SNP Nexus

SNPshotrs398124467
SNPdbers398124467
MSV3drs398124467
GWAS Ctlgrs398124467
Max Magnitude0
ClinVar
Risk rs398124467(G;G)
Alt rs398124467(G;G)
Reference rs398124467(;)
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.36985908dupG
CLNSRC ClinVar
CLNACC RCV000082487.3, RCV000173920.1,