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rs797045756

From SNPedia

Orientationplus
Make rs797045756(-;-)
Make rs797045756(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36995764
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045756
ebirs797045756
HLIrs797045756
Exacrs797045756
Varsomers797045756
Maprs797045756
PheGenIrs797045756
hapmaprs797045756
1000 genomesrs797045756
hgdprs797045756
ensemblrs797045756
gopubmedrs797045756
geneviewrs797045756
scholarrs797045756
googlers797045756
pharmgkbrs797045756
gwascentralrs797045756
openSNPrs797045756
23andMers797045756
23andMe allrs797045756
SNP Nexus

SNPshotrs797045756
SNPdbers797045756
MSV3drs797045756
GWAS Ctlgrs797045756
Max Magnitude
ClinVar
Risk rs797045756(;)
Alt rs797045756(;)
Reference rs797045756(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.36995866delC
CLNSRC
CLNACC RCV000194051.1,