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rs387906816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906816(A;A)
Make rs387906816(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position22171695
GeneGATA6
is asnp
is mentioned by
dbSNPrs387906816
dbSNP (classic)rs387906816
ClinGenrs387906816
ebirs387906816
HLIrs387906816
Exacrs387906816
Gnomadrs387906816
Varsomers387906816
LitVarrs387906816
Maprs387906816
PheGenIrs387906816
Biobankrs387906816
1000 genomesrs387906816
hgdprs387906816
ensemblrs387906816
geneviewrs387906816
scholarrs387906816
googlers387906816
pharmgkbrs387906816
gwascentralrs387906816
openSNPrs387906816
23andMers387906816
SNPshotrs387906816
SNPdbers387906816
MSV3drs387906816
GWAS Ctlgrs387906816
Max Magnitude0
ClinVar
Risk rs387906816(A;A)
Alt rs387906816(A;A)
Reference Rs387906816(G;G)
Significance Pathogenic
Disease Atrial septal defect 9 Tetralogy of Fallot
Variation info
Gene GATA6
CLNDBN Atrial septal defect 9 Tetralogy of Fallot
Reversed 0
HGVS NC_000018.9:g.19751656G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023131.2, RCV000023132.3,