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

rs121918265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918265(A;G)
Make rs121918265(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37057211
GeneNIPBL
is asnp
is mentioned by
dbSNPrs121918265
ebirs121918265
HLIrs121918265
Exacrs121918265
Varsomers121918265
Maprs121918265
PheGenIrs121918265
hapmaprs121918265
1000 genomesrs121918265
hgdprs121918265
ensemblrs121918265
gopubmedrs121918265
geneviewrs121918265
scholarrs121918265
googlers121918265
pharmgkbrs121918265
gwascentralrs121918265
openSNPrs121918265
23andMers121918265
23andMe allrs121918265
SNP Nexus

SNPshotrs121918265
SNPdbers121918265
MSV3drs121918265
GWAS Ctlgrs121918265
Max Magnitude0
OMIM608667
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918265(G;G)
Alt rs121918265(G;G)
Reference rs121918265(A;A)
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.37057313A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002222.2,