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rs372004083

From SNPedia

Orientationplus
Stabilizedplus
Make rs372004083(C;C)
Make rs372004083(C;T)
Make rs372004083(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome8
Position11703278
GeneGATA4
is asnp
is mentioned by
dbSNPrs372004083
dbSNP (classic)rs372004083
ClinGenrs372004083
ebirs372004083
HLIrs372004083
Exacrs372004083
Gnomadrs372004083
Varsomers372004083
LitVarrs372004083
Maprs372004083
PheGenIrs372004083
Biobankrs372004083
1000 genomesrs372004083
hgdprs372004083
ensemblrs372004083
geneviewrs372004083
scholarrs372004083
googlers372004083
pharmgkbrs372004083
gwascentralrs372004083
openSNPrs372004083
23andMers372004083
23andMe allrs372004083
SNPshotrs372004083
SNPdbers372004083
MSV3drs372004083
GWAS Ctlgrs372004083
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs372004083(C;C)
Alt rs372004083(C;C)
Reference rs372004083(T;T)
Significance Unknown
Disease Atrioventricular septal defect 4
Variation info
Gene GATA4
CLNDBN Atrioventricular septal defect 4
Reversed 0
HGVS NC_000008.10:g.11560787T>C
CLNSRC
CLNACC RCV000470294.1,