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rs398124465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs398124465(-;-)
Make rs398124465(-;AG)
ReferenceGRCh38 38.1/141
Chromosome5
Position36985659
GeneNIPBL
is asnp
is mentioned by
dbSNPrs398124465
ebirs398124465
HLIrs398124465
Exacrs398124465
Varsomers398124465
Maprs398124465
PheGenIrs398124465
hapmaprs398124465
1000 genomesrs398124465
hgdprs398124465
ensemblrs398124465
gopubmedrs398124465
geneviewrs398124465
scholarrs398124465
googlers398124465
pharmgkbrs398124465
gwascentralrs398124465
openSNPrs398124465
23andMers398124465
23andMe allrs398124465
SNP Nexus

SNPshotrs398124465
SNPdbers398124465
MSV3drs398124465
GWAS Ctlgrs398124465
Max Magnitude0
ClinVar
Risk rs398124465(;)
Alt rs398124465(;)
Reference rs398124465(AG;AG)
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.36985761_36985762delAG
CLNSRC HGMD
CLNACC RCV000082485.3, RCV000146547.2,