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rs121909283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909283(A;A)
Make rs121909283(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position70435399
GeneNODAL
is asnp
is mentioned by
dbSNPrs121909283
dbSNP (classic)rs121909283
ClinGenrs121909283
ebirs121909283
HLIrs121909283
Exacrs121909283
Gnomadrs121909283
Varsomers121909283
LitVarrs121909283
Maprs121909283
PheGenIrs121909283
Biobankrs121909283
1000 genomesrs121909283
hgdprs121909283
ensemblrs121909283
geneviewrs121909283
scholarrs121909283
googlers121909283
pharmgkbrs121909283
gwascentralrs121909283
openSNPrs121909283
23andMers121909283
SNPshotrs121909283
SNPdbers121909283
MSV3drs121909283
GWAS Ctlgrs121909283
Max Magnitude0
OMIM601265
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909283(A;A) rs121909283(T;T)
Alt rs121909283(A;A) rs121909283(T;T)
Reference Rs121909283(G;G)
Significance Pathogenic
Disease Visceral heterotaxy 5
Variation info
Gene NODAL
CLNDBN Visceral heterotaxy 5, autosomal
Reversed 1
HGVS NC_000010.10:g.72195155C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008758.2,