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rs797045786

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045786(-;A)
Make rs797045786(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37063842
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045786
ClinGenrs797045786
ebirs797045786
HLIrs797045786
Exacrs797045786
Varsomers797045786
Maprs797045786
PheGenIrs797045786
hapmaprs797045786
1000 genomesrs797045786
hgdprs797045786
ensemblrs797045786
gopubmedrs797045786
geneviewrs797045786
scholarrs797045786
googlers797045786
pharmgkbrs797045786
gwascentralrs797045786
openSNPrs797045786
23andMers797045786
23andMe allrs797045786
SNP Nexus

SNPshotrs797045786
SNPdbers797045786
MSV3drs797045786
GWAS Ctlgrs797045786
Max Magnitude0
ClinVar
Risk rs797045786(A;A)
Alt rs797045786(A;A)
Reference Rs797045786(;)
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.37063944dupA
CLNSRC
CLNACC RCV000194911.1,