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rs797045593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045593(C;T)
Make rs797045593(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position22172231
GeneGATA6
is asnp
is mentioned by
dbSNPrs797045593
dbSNP (classic)rs797045593
ClinGenrs797045593
ebirs797045593
HLIrs797045593
Exacrs797045593
Gnomadrs797045593
Varsomers797045593
LitVarrs797045593
Maprs797045593
PheGenIrs797045593
Biobankrs797045593
1000 genomesrs797045593
hgdprs797045593
ensemblrs797045593
geneviewrs797045593
scholarrs797045593
googlers797045593
pharmgkbrs797045593
gwascentralrs797045593
openSNPrs797045593
23andMers797045593
SNPshotrs797045593
SNPdbers797045593
MSV3drs797045593
GWAS Ctlgrs797045593
Max Magnitude0
ClinVar
Risk rs797045593(T;T)
Alt rs797045593(T;T)
Reference Rs797045593(C;C)
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.19752192C>T
CLNSRC
CLNACC RCV000194865.1,