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rs387906817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906817(A;G)
Make rs387906817(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position22181504
GeneGATA6
is asnp
is mentioned by
dbSNPrs387906817
dbSNP (classic)rs387906817
ClinGenrs387906817
ebirs387906817
HLIrs387906817
Exacrs387906817
Gnomadrs387906817
Varsomers387906817
LitVarrs387906817
Maprs387906817
PheGenIrs387906817
Biobankrs387906817
1000 genomesrs387906817
hgdprs387906817
ensemblrs387906817
geneviewrs387906817
scholarrs387906817
googlers387906817
pharmgkbrs387906817
gwascentralrs387906817
openSNPrs387906817
23andMers387906817
SNPshotrs387906817
SNPdbers387906817
MSV3drs387906817
GWAS Ctlgrs387906817
Max Magnitude0
ClinVar
Risk rs387906817(G;G)
Alt rs387906817(G;G)
Reference Rs387906817(A;A)
Significance Pathogenic
Disease Pancreatic agenesis and congenital heart disease
Variation info
Gene GATA6
CLNDBN Pancreatic agenesis and congenital heart disease
Reversed 0
HGVS NC_000018.9:g.19761465A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023133.3,