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rs387906820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906820(A;A)
Make rs387906820(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position22181549
GeneGATA6
is asnp
is mentioned by
dbSNPrs387906820
dbSNP (classic)rs387906820
ClinGenrs387906820
ebirs387906820
HLIrs387906820
Exacrs387906820
Gnomadrs387906820
Varsomers387906820
LitVarrs387906820
Maprs387906820
PheGenIrs387906820
Biobankrs387906820
1000 genomesrs387906820
hgdprs387906820
ensemblrs387906820
geneviewrs387906820
scholarrs387906820
googlers387906820
pharmgkbrs387906820
gwascentralrs387906820
openSNPrs387906820
23andMers387906820
SNPshotrs387906820
SNPdbers387906820
MSV3drs387906820
GWAS Ctlgrs387906820
Max Magnitude0
ClinVar
Risk rs387906820(A;A)
Alt rs387906820(A;A)
Reference Rs387906820(G;G)
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.19761510G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023138.3,