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rs797045751

From SNPedia

Orientationplus
Make rs797045751(-;-)
Make rs797045751(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36985644
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045751
ebirs797045751
HLIrs797045751
Exacrs797045751
Varsomers797045751
Maprs797045751
PheGenIrs797045751
hapmaprs797045751
1000 genomesrs797045751
hgdprs797045751
ensemblrs797045751
gopubmedrs797045751
geneviewrs797045751
scholarrs797045751
googlers797045751
pharmgkbrs797045751
gwascentralrs797045751
openSNPrs797045751
23andMers797045751
23andMe allrs797045751
SNP Nexus

SNPshotrs797045751
SNPdbers797045751
MSV3drs797045751
GWAS Ctlgrs797045751
Max Magnitude
ClinVar
Risk rs797045751(;)
Alt rs797045751(;)
Reference rs797045751(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.36985746delC
CLNSRC
CLNACC RCV000194656.1,