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rs62635763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62635763(C;T)
Make rs62635763(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219423787
GeneDES
is asnp
is mentioned by
dbSNPrs62635763
ebirs62635763
HLIrs62635763
Exacrs62635763
Varsomers62635763
Maprs62635763
PheGenIrs62635763
hapmaprs62635763
1000 genomesrs62635763
hgdprs62635763
ensemblrs62635763
gopubmedrs62635763
geneviewrs62635763
scholarrs62635763
googlers62635763
pharmgkbrs62635763
gwascentralrs62635763
openSNPrs62635763
23andMers62635763
23andMe allrs62635763
SNP Nexus

SNPshotrs62635763
SNPdbers62635763
MSV3drs62635763
GWAS Ctlgrs62635763
Max Magnitude0
ClinVar
Risk rs62635763(T;T)
Alt rs62635763(T;T)
Reference rs62635763(C;C)
Significance Pathogenic
Disease Myofibrillar myopathy 1 not provided
Variation info
Gene DES LOC101928568
CLNDBN Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220288509C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032923.28, RCV000056783.1,