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rs387906818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906818(C;T)
Make rs387906818(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position22181516
GeneGATA6
is asnp
is mentioned by
dbSNPrs387906818
ebirs387906818
HLIrs387906818
Exacrs387906818
Varsomers387906818
Maprs387906818
PheGenIrs387906818
hapmaprs387906818
1000 genomesrs387906818
hgdprs387906818
ensemblrs387906818
gopubmedrs387906818
geneviewrs387906818
scholarrs387906818
googlers387906818
pharmgkbrs387906818
gwascentralrs387906818
openSNPrs387906818
23andMers387906818
23andMe allrs387906818
SNP Nexus

SNPshotrs387906818
SNPdbers387906818
MSV3drs387906818
GWAS Ctlgrs387906818
Max Magnitude0
ClinVar
Risk rs387906818(T;T)
Alt rs387906818(T;T)
Reference rs387906818(C;C)
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.19761477C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023135.4, RCV000191918.1,