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rs104894169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894169(A;A)
Make rs104894169(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position70435629
GeneNODAL
is asnp
is mentioned by
dbSNPrs104894169
dbSNP (classic)rs104894169
ClinGenrs104894169
ebirs104894169
HLIrs104894169
Exacrs104894169
Gnomadrs104894169
Varsomers104894169
LitVarrs104894169
Maprs104894169
PheGenIrs104894169
Biobankrs104894169
1000 genomesrs104894169
hgdprs104894169
ensemblrs104894169
geneviewrs104894169
scholarrs104894169
googlers104894169
pharmgkbrs104894169
gwascentralrs104894169
openSNPrs104894169
23andMers104894169
SNPshotrs104894169
SNPdbers104894169
MSV3drs104894169
GWAS Ctlgrs104894169
GMAF0.001837
Max Magnitude0
OMIM601265
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894169(A;A)
Alt rs104894169(A;A)
Reference Rs104894169(G;G)
Significance Pathogenic
Disease Visceral heterotaxy 5 not specified
Variation info
Gene NODAL
CLNDBN Visceral heterotaxy 5, autosomal not specified
Reversed 1
HGVS NC_000010.10:g.72195385C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008757.2, RCV000081931.4,