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rs797045747

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045747(A;G)
Make rs797045747(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36984668
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045747
ebirs797045747
HLIrs797045747
Exacrs797045747
Varsomers797045747
Maprs797045747
PheGenIrs797045747
hapmaprs797045747
1000 genomesrs797045747
hgdprs797045747
ensemblrs797045747
gopubmedrs797045747
geneviewrs797045747
scholarrs797045747
googlers797045747
pharmgkbrs797045747
gwascentralrs797045747
openSNPrs797045747
23andMers797045747
23andMe allrs797045747
SNP Nexus

SNPshotrs797045747
SNPdbers797045747
MSV3drs797045747
GWAS Ctlgrs797045747
Max Magnitude0
ClinVar
Risk rs797045747(G;G)
Alt rs797045747(G;G)
Reference rs797045747(A;A)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36984770A>G
CLNSRC
CLNACC RCV000193488.1,