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rs62636495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62636495(C;T)
Make rs62636495(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219418500
GeneDES
is asnp
is mentioned by
dbSNPrs62636495
ebirs62636495
HLIrs62636495
Exacrs62636495
Varsomers62636495
Maprs62636495
PheGenIrs62636495
hapmaprs62636495
1000 genomesrs62636495
hgdprs62636495
ensemblrs62636495
gopubmedrs62636495
geneviewrs62636495
scholarrs62636495
googlers62636495
pharmgkbrs62636495
gwascentralrs62636495
openSNPrs62636495
23andMers62636495
23andMe allrs62636495
SNP Nexus

SNPshotrs62636495
SNPdbers62636495
MSV3drs62636495
GWAS Ctlgrs62636495
Max Magnitude0
ClinVar
Risk rs62636495(T;T)
Alt rs62636495(T;T)
Reference rs62636495(C;C)
Significance Pathogenic
Disease Primary dilated cardiomyopathy not provided Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN Primary dilated cardiomyopathy not provided Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220283222C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000037240.2, RCV000056801.2, RCV000133501.6,