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rs387906819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906819(A;A)
Make rs387906819(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position22181517
GeneGATA6
is asnp
is mentioned by
dbSNPrs387906819
dbSNP (classic)rs387906819
ClinGenrs387906819
ebirs387906819
HLIrs387906819
Exacrs387906819
Gnomadrs387906819
Varsomers387906819
LitVarrs387906819
Maprs387906819
PheGenIrs387906819
Biobankrs387906819
1000 genomesrs387906819
hgdprs387906819
ensemblrs387906819
geneviewrs387906819
scholarrs387906819
googlers387906819
pharmgkbrs387906819
gwascentralrs387906819
openSNPrs387906819
23andMers387906819
SNPshotrs387906819
SNPdbers387906819
MSV3drs387906819
GWAS Ctlgrs387906819
Max Magnitude0
ClinVar
Risk rs387906819(A;A)
Alt rs387906819(A;A)
Reference Rs387906819(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.19761478G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023136.3,