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rs1057518944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057518944(-;-)
Make rs1057518944(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position36984990
GeneNIPBL
is asnp
is mentioned by
dbSNPrs1057518944
dbSNP (old)rs1057518944
ClinGenrs1057518944
ebirs1057518944
HLIrs1057518944
Exacrs1057518944
Gnomadrs1057518944
Varsomers1057518944
Maprs1057518944
PheGenIrs1057518944
Biobankrs1057518944
1000 genomesrs1057518944
hgdprs1057518944
ensemblrs1057518944
gopubmedrs1057518944
geneviewrs1057518944
scholarrs1057518944
googlers1057518944
pharmgkbrs1057518944
gwascentralrs1057518944
openSNPrs1057518944
23andMers1057518944
23andMe allrs1057518944
SNPshotrs1057518944
SNPdbers1057518944
MSV3drs1057518944
GWAS Ctlgrs1057518944
Max Magnitude0
ClinVar
Risk rs1057518944(-;-)
Alt rs1057518944(-;-)
Reference Rs1057518944(TC;TC)
Significance Probable-Pathogenic
Disease Congenital diaphragmatic hernia Cryptorchidism Hypospadias Intrauterine growth retardation Long philtrum Microretrognathia Pulmonary hypoplasia Right ventricular hypertrophy Single umbilical artery
Variation info
Gene NIPBL
CLNDBN Congenital diaphragmatic hernia Cryptorchidism Hypospadias Intrauterine growth retardation Long philtrum Microretrognathia Pulmonary hypoplasia Right ventricular hypertrophy Single umbilical artery
Reversed 0
HGVS NC_000005.9:g.36985092_36985093delTC
CLNSRC
CLNACC RCV000414869.1,