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rs797045180

From SNPedia

Merged intors587777711
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045180(-;-)
Make rs797045180(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position22172215
GeneGATA6
is asnp
is mentioned by
dbSNPrs797045180
dbSNP (classic)rs797045180
ClinGenrs797045180
ebirs797045180
HLIrs797045180
Exacrs797045180
Gnomadrs797045180
Varsomers797045180
LitVarrs797045180
Maprs797045180
PheGenIrs797045180
Biobankrs797045180
1000 genomesrs797045180
hgdprs797045180
ensemblrs797045180
geneviewrs797045180
scholarrs797045180
googlers797045180
pharmgkbrs797045180
gwascentralrs797045180
openSNPrs797045180
23andMers797045180
SNPshotrs797045180
SNPdbers797045180
MSV3drs797045180
GWAS Ctlgrs797045180
StatusMerged into rs587777711
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs797045180(G;G)
Significance Pathogenic
Disease Pancreatic agenesis and congenital heart disease Congenital diaphragmatic hernia Malformation of the heart and great vessels
Variation info
Gene GATA6
CLNDBN Pancreatic agenesis and congenital heart disease Congenital diaphragmatic hernia Malformation of the heart and great vessels
Reversed 0
HGVS NC_000018.9:g.19752177delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000144068.2, RCV000191917.1,