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rs797045778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045778(-;A)
Make rs797045778(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37048619
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045778
dbSNP (old)rs797045778
ClinGenrs797045778
ebirs797045778
HLIrs797045778
Exacrs797045778
Gnomadrs797045778
Varsomers797045778
Maprs797045778
PheGenIrs797045778
Biobankrs797045778
1000 genomesrs797045778
hgdprs797045778
ensemblrs797045778
gopubmedrs797045778
geneviewrs797045778
scholarrs797045778
googlers797045778
pharmgkbrs797045778
gwascentralrs797045778
openSNPrs797045778
23andMers797045778
23andMe allrs797045778
SNP Nexus

SNPshotrs797045778
SNPdbers797045778
MSV3drs797045778
GWAS Ctlgrs797045778
Max Magnitude0
ClinVar
Risk rs797045778(A;A)
Alt rs797045778(A;A)
Reference Rs797045778(-;-)
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.37048721dupA
CLNSRC
CLNACC RCV000194372.1,