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rs397514744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514744(C;T)
Make rs397514744(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position3402986
GenePRDM16
is asnp
is mentioned by
dbSNPrs397514744
dbSNP (classic)rs397514744
ClinGenrs397514744
ebirs397514744
HLIrs397514744
Exacrs397514744
Gnomadrs397514744
Varsomers397514744
LitVarrs397514744
Maprs397514744
PheGenIrs397514744
Biobankrs397514744
1000 genomesrs397514744
hgdprs397514744
ensemblrs397514744
geneviewrs397514744
scholarrs397514744
googlers397514744
pharmgkbrs397514744
gwascentralrs397514744
openSNPrs397514744
23andMers397514744
SNPshotrs397514744
SNPdbers397514744
MSV3drs397514744
GWAS Ctlgrs397514744
Max Magnitude0
ClinVar
Risk rs397514744(T;T)
Alt rs397514744(T;T)
Reference Rs397514744(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1LL
Variation info
Gene PRDM16
CLNDBN Dilated cardiomyopathy 1LL
Reversed 0
HGVS NC_000001.10:g.3319550C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000054522.3,