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rs727503767

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503767(-;-)
Make rs727503767(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36984981
GeneNIPBL
is asnp
is mentioned by
dbSNPrs727503767
ebirs727503767
HLIrs727503767
Exacrs727503767
Varsomers727503767
Maprs727503767
PheGenIrs727503767
hapmaprs727503767
1000 genomesrs727503767
hgdprs727503767
ensemblrs727503767
gopubmedrs727503767
geneviewrs727503767
scholarrs727503767
googlers727503767
pharmgkbrs727503767
gwascentralrs727503767
openSNPrs727503767
23andMers727503767
23andMe allrs727503767
SNP Nexus

SNPshotrs727503767
SNPdbers727503767
MSV3drs727503767
GWAS Ctlgrs727503767
Max Magnitude0
ClinVar
Risk rs727503767(;)
Alt rs727503767(;)
Reference rs727503767(A;A)
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.36985083delA
CLNSRC
CLNACC RCV000157043.1,