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rs121918266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
(ATA;ATA) 0 common in clinvar
Make rs121918266(-;-)
Make rs121918266(-;ATA)
ReferenceGRCh38 38.1/141
Chromosome5
Position37001030
GeneNIPBL
is asnp
is mentioned by
dbSNPrs121918266
ebirs121918266
HLIrs121918266
Exacrs121918266
Varsomers121918266
Maprs121918266
PheGenIrs121918266
hapmaprs121918266
1000 genomesrs121918266
hgdprs121918266
ensemblrs121918266
gopubmedrs121918266
geneviewrs121918266
scholarrs121918266
googlers121918266
pharmgkbrs121918266
gwascentralrs121918266
openSNPrs121918266
23andMers121918266
23andMe allrs121918266
SNP Nexus

SNPshotrs121918266
SNPdbers121918266
MSV3drs121918266
GWAS Ctlgrs121918266
Max Magnitude0
OMIM608667
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918266(;)
Alt rs121918266(;)
Reference rs121918266(AAT;AAT)
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.37001132_37001134delATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002226.2,