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rs387906813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906813(A;C)
Make rs387906813(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position22181546
GeneGATA6
is asnp
is mentioned by
dbSNPrs387906813
ebirs387906813
HLIrs387906813
Exacrs387906813
Varsomers387906813
Maprs387906813
PheGenIrs387906813
hapmaprs387906813
1000 genomesrs387906813
hgdprs387906813
ensemblrs387906813
gopubmedrs387906813
geneviewrs387906813
scholarrs387906813
googlers387906813
pharmgkbrs387906813
gwascentralrs387906813
openSNPrs387906813
23andMers387906813
23andMe allrs387906813
SNP Nexus

SNPshotrs387906813
SNPdbers387906813
MSV3drs387906813
GWAS Ctlgrs387906813
Max Magnitude0
ClinVar
Risk rs387906813(C,G;C,G)
Alt rs387906813(C,G;C,G)
Reference rs387906813(A;A)
Significance Pathogenic
Disease Persistent truncus arteriosus Pancreatic agenesis and congenital heart disease
Variation info
Gene GATA6
CLNDBN Persistent truncus arteriosus Pancreatic agenesis and congenital heart disease
Reversed 0
HGVS NC_000018.9:g.19761507A>C; NC_000018.9:g.19761507A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023128.2, RCV000023137.3,