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rs397516695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516695(A;A)
Make rs397516695(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position219418869
GeneDES
is asnp
is mentioned by
dbSNPrs397516695
dbSNP (classic)rs397516695
ClinGenrs397516695
ebirs397516695
HLIrs397516695
Exacrs397516695
Gnomadrs397516695
Varsomers397516695
LitVarrs397516695
Maprs397516695
PheGenIrs397516695
Biobankrs397516695
1000 genomesrs397516695
hgdprs397516695
ensemblrs397516695
geneviewrs397516695
scholarrs397516695
googlers397516695
pharmgkbrs397516695
gwascentralrs397516695
openSNPrs397516695
23andMers397516695
SNPshotrs397516695
SNPdbers397516695
MSV3drs397516695
GWAS Ctlgrs397516695
Max Magnitude0
ClinVar
Risk rs397516695(A;A) rs397516695(C;C)
Alt rs397516695(A;A) rs397516695(C;C)
Reference Rs397516695(T;T)
Significance Probable-Pathogenic
Disease not specified Dilated cardiomyopathy 1S
Variation info
Gene DES
CLNDBN not specified Dilated cardiomyopathy 1S
Reversed 0
HGVS NC_000002.11:g.220283591T>A; NC_000002.11:g.220283591T>C
CLNSRC
CLNACC RCV000037241.5, RCV000491641.1,