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rs397514743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514743(A;G)
Make rs397514743(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position3412644
GenePRDM16
is asnp
is mentioned by
dbSNPrs397514743
dbSNP (classic)rs397514743
ClinGenrs397514743
ebirs397514743
HLIrs397514743
Exacrs397514743
Gnomadrs397514743
Varsomers397514743
LitVarrs397514743
Maprs397514743
PheGenIrs397514743
Biobankrs397514743
1000 genomesrs397514743
hgdprs397514743
ensemblrs397514743
geneviewrs397514743
scholarrs397514743
googlers397514743
pharmgkbrs397514743
gwascentralrs397514743
openSNPrs397514743
23andMers397514743
SNPshotrs397514743
SNPdbers397514743
MSV3drs397514743
GWAS Ctlgrs397514743
Max Magnitude0
ClinVar
Risk rs397514743(G;G)
Alt rs397514743(G;G)
Reference Rs397514743(A;A)
Significance Pathogenic
Disease Left ventricular noncompaction 8
Variation info
Gene PRDM16
CLNDBN Left ventricular noncompaction 8
Reversed 0
HGVS NC_000001.10:g.3329208A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000054520.3,