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rs121918267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918267(C;T)
Make rs121918267(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37020615
GeneNIPBL
is asnp
is mentioned by
dbSNPrs121918267
ebirs121918267
HLIrs121918267
Exacrs121918267
Varsomers121918267
Maprs121918267
PheGenIrs121918267
hapmaprs121918267
1000 genomesrs121918267
hgdprs121918267
ensemblrs121918267
gopubmedrs121918267
geneviewrs121918267
scholarrs121918267
googlers121918267
pharmgkbrs121918267
gwascentralrs121918267
openSNPrs121918267
23andMers121918267
23andMe allrs121918267
SNP Nexus

SNPshotrs121918267
SNPdbers121918267
MSV3drs121918267
GWAS Ctlgrs121918267
Max Magnitude0
OMIM608667
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918267(T;T)
Alt rs121918267(T;T)
Reference rs121918267(C;C)
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.37020717C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002228.3,