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rs121918268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918268(C;G)
Make rs121918268(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37002734
GeneNIPBL
is asnp
is mentioned by
dbSNPrs121918268
ebirs121918268
HLIrs121918268
Exacrs121918268
Varsomers121918268
Maprs121918268
PheGenIrs121918268
hapmaprs121918268
1000 genomesrs121918268
hgdprs121918268
ensemblrs121918268
gopubmedrs121918268
geneviewrs121918268
scholarrs121918268
googlers121918268
pharmgkbrs121918268
gwascentralrs121918268
openSNPrs121918268
23andMers121918268
23andMe allrs121918268
SNP Nexus

SNPshotrs121918268
SNPdbers121918268
MSV3drs121918268
GWAS Ctlgrs121918268
Max Magnitude0
OMIM608667
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918268(G;G)
Alt rs121918268(G;G)
Reference rs121918268(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.37002836C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002229.2,