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rs121918264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918264(A;A)
Make rs121918264(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position36953698
GeneNIPBL
is asnp
is mentioned by
dbSNPrs121918264
ebirs121918264
HLIrs121918264
Exacrs121918264
Varsomers121918264
Maprs121918264
PheGenIrs121918264
hapmaprs121918264
1000 genomesrs121918264
hgdprs121918264
ensemblrs121918264
gopubmedrs121918264
geneviewrs121918264
scholarrs121918264
googlers121918264
pharmgkbrs121918264
gwascentralrs121918264
openSNPrs121918264
23andMers121918264
23andMe allrs121918264
SNP Nexus

SNPshotrs121918264
SNPdbers121918264
MSV3drs121918264
GWAS Ctlgrs121918264
Max Magnitude0
OMIM608667
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918264(A;A)
Alt rs121918264(A;A)
Reference rs121918264(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.36953800T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002221.2,