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rs727503769

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503769(G;T)
Make rs727503769(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37008623
GeneNIPBL
is asnp
is mentioned by
dbSNPrs727503769
ebirs727503769
HLIrs727503769
Exacrs727503769
Varsomers727503769
Maprs727503769
PheGenIrs727503769
hapmaprs727503769
1000 genomesrs727503769
hgdprs727503769
ensemblrs727503769
gopubmedrs727503769
geneviewrs727503769
scholarrs727503769
googlers727503769
pharmgkbrs727503769
gwascentralrs727503769
openSNPrs727503769
23andMers727503769
23andMe allrs727503769
SNP Nexus

SNPshotrs727503769
SNPdbers727503769
MSV3drs727503769
GWAS Ctlgrs727503769
Max Magnitude0
ClinVar
Risk rs727503769(A,T;A,T)
Alt rs727503769(A,T;A,T)
Reference rs727503769(G;G)
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.37008725G>T
CLNSRC
CLNACC RCV000157045.1,