Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918269(C;T)
Make rs121918269(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37014728
GeneNIPBL
is asnp
is mentioned by
dbSNPrs121918269
ebirs121918269
HLIrs121918269
Exacrs121918269
Varsomers121918269
Maprs121918269
PheGenIrs121918269
hapmaprs121918269
1000 genomesrs121918269
hgdprs121918269
ensemblrs121918269
gopubmedrs121918269
geneviewrs121918269
scholarrs121918269
googlers121918269
pharmgkbrs121918269
gwascentralrs121918269
openSNPrs121918269
23andMers121918269
23andMe allrs121918269
SNP Nexus

SNPshotrs121918269
SNPdbers121918269
MSV3drs121918269
GWAS Ctlgrs121918269
Max Magnitude0
OMIM608667
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918269(T;T)
Alt rs121918269(T;T)
Reference rs121918269(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.37014830C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002232.3,