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rs797045755

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045755(-;A)
Make rs797045755(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36958187
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045755
ClinGenrs797045755
ebirs797045755
HLIrs797045755
Exacrs797045755
Varsomers797045755
Maprs797045755
PheGenIrs797045755
hapmaprs797045755
1000 genomesrs797045755
hgdprs797045755
ensemblrs797045755
gopubmedrs797045755
geneviewrs797045755
scholarrs797045755
googlers797045755
pharmgkbrs797045755
gwascentralrs797045755
openSNPrs797045755
23andMers797045755
23andMe allrs797045755
SNP Nexus

SNPshotrs797045755
SNPdbers797045755
MSV3drs797045755
GWAS Ctlgrs797045755
Max Magnitude0
ClinVar
Risk rs797045755(A;A)
Alt rs797045755(A;A)
Reference Rs797045755(;)
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.36958289dupA
CLNSRC
CLNACC RCV000192791.1,