Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516034(C;T)
Make rs1057516034(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position37052453
GeneNIPBL
is asnp
is mentioned by
dbSNPrs1057516034
dbSNP (old)rs1057516034
ClinGenrs1057516034
ebirs1057516034
HLIrs1057516034
Exacrs1057516034
Gnomadrs1057516034
Varsomers1057516034
Maprs1057516034
PheGenIrs1057516034
Biobankrs1057516034
1000 genomesrs1057516034
hgdprs1057516034
ensemblrs1057516034
gopubmedrs1057516034
geneviewrs1057516034
scholarrs1057516034
googlers1057516034
pharmgkbrs1057516034
gwascentralrs1057516034
openSNPrs1057516034
23andMers1057516034
23andMe allrs1057516034
SNPshotrs1057516034
SNPdbers1057516034
MSV3drs1057516034
GWAS Ctlgrs1057516034
Max Magnitude0
ClinVar
Risk rs1057516034(T;T)
Alt rs1057516034(T;T)
Reference Rs1057516034(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.37052555C>T
CLNSRC
CLNACC RCV000408616.1,