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rs1904589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1904589(C;C)
Make rs1904589(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70435683
GeneNODAL
is asnp
is mentioned by
dbSNPrs1904589
ebirs1904589
HLIrs1904589
Exacrs1904589
Varsomers1904589
Maprs1904589
PheGenIrs1904589
hapmaprs1904589
1000 genomesrs1904589
hgdprs1904589
ensemblrs1904589
gopubmedrs1904589
geneviewrs1904589
scholarrs1904589
googlers1904589
pharmgkbrs1904589
gwascentralrs1904589
openSNPrs1904589
23andMers1904589
23andMe allrs1904589
SNP Nexus

SNPshotrs1904589
SNPdbers1904589
MSV3drs1904589
GWAS Ctlgrs1904589
GMAF0.3434
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 23076529] Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population


GET Evidence
NODAL-H165R
aa_change His165Arg
aa_change_short H165R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.535044
summary



[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


ClinVar
Risk rs1904589(C;C)
Alt rs1904589(C;C)
Reference rs1904589(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NODAL
CLNDBN not specified
Reversed 0
HGVS NC_000010.10:g.72195439T>C
CLNSRC HGMD
CLNACC RCV000081930.4,



[PMID 25765999] Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia