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rs727503772

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727503772(C;C)
Make rs727503772(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37059117
GeneNIPBL
is asnp
is mentioned by
dbSNPrs727503772
ebirs727503772
HLIrs727503772
Exacrs727503772
Varsomers727503772
Maprs727503772
PheGenIrs727503772
hapmaprs727503772
1000 genomesrs727503772
hgdprs727503772
ensemblrs727503772
gopubmedrs727503772
geneviewrs727503772
scholarrs727503772
googlers727503772
pharmgkbrs727503772
gwascentralrs727503772
openSNPrs727503772
23andMers727503772
23andMe allrs727503772
SNP Nexus

SNPshotrs727503772
SNPdbers727503772
MSV3drs727503772
GWAS Ctlgrs727503772
Max Magnitude0
ClinVar
Risk rs727503772(C;C)
Alt rs727503772(C;C)
Reference rs727503772(T;T)
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.37059219T>C
CLNSRC
CLNACC RCV000157048.1,