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rs727503766

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs727503766(-;-)
Make rs727503766(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985327
GeneNIPBL
is asnp
is mentioned by
dbSNPrs727503766
ebirs727503766
HLIrs727503766
Exacrs727503766
Varsomers727503766
Maprs727503766
PheGenIrs727503766
hapmaprs727503766
1000 genomesrs727503766
hgdprs727503766
ensemblrs727503766
gopubmedrs727503766
geneviewrs727503766
scholarrs727503766
googlers727503766
pharmgkbrs727503766
gwascentralrs727503766
openSNPrs727503766
23andMers727503766
23andMe allrs727503766
SNP Nexus

SNPshotrs727503766
SNPdbers727503766
MSV3drs727503766
GWAS Ctlgrs727503766
Max Magnitude0
ClinVar
Risk rs727503766(;)
Alt rs727503766(;)
Reference rs727503766(AA;AA)
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.36985429_36985430delAA
CLNSRC
CLNACC RCV000157042.1,