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rs62654864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62654864(C;G)
Make rs62654864(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position37022298
GeneNIPBL
is asnp
is mentioned by
dbSNPrs62654864
ebirs62654864
HLIrs62654864
Exacrs62654864
Varsomers62654864
Maprs62654864
PheGenIrs62654864
hapmaprs62654864
1000 genomesrs62654864
hgdprs62654864
ensemblrs62654864
gopubmedrs62654864
geneviewrs62654864
scholarrs62654864
googlers62654864
pharmgkbrs62654864
gwascentralrs62654864
openSNPrs62654864
23andMers62654864
23andMe allrs62654864
SNP Nexus

SNPshotrs62654864
SNPdbers62654864
MSV3drs62654864
GWAS Ctlgrs62654864
Max Magnitude0
ClinVar
Risk rs62654864(G,T;G,T)
Alt rs62654864(G,T;G,T)
Reference rs62654864(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.37022400C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146647.1,