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rs77632238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs77632238(C;T)
Make rs77632238(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position37016106
GeneNIPBL
is asnp
is mentioned by
dbSNPrs77632238
ebirs77632238
HLIrs77632238
Exacrs77632238
Varsomers77632238
Maprs77632238
PheGenIrs77632238
hapmaprs77632238
1000 genomesrs77632238
hgdprs77632238
ensemblrs77632238
gopubmedrs77632238
geneviewrs77632238
scholarrs77632238
googlers77632238
pharmgkbrs77632238
gwascentralrs77632238
openSNPrs77632238
23andMers77632238
23andMe allrs77632238
SNP Nexus

SNPshotrs77632238
SNPdbers77632238
MSV3drs77632238
GWAS Ctlgrs77632238
Max Magnitude0
ClinVar
Risk rs77632238(A,T;A,T)
Alt rs77632238(A,T;A,T)
Reference rs77632238(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.37016208C>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000146620.1,