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rs1060503165

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503165(C;T)
Make rs1060503165(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position219418856
GeneDES
is asnp
is mentioned by
dbSNPrs1060503165
dbSNP (old)rs1060503165
ClinGenrs1060503165
ebirs1060503165
HLIrs1060503165
Exacrs1060503165
Gnomadrs1060503165
Varsomers1060503165
Maprs1060503165
PheGenIrs1060503165
Biobankrs1060503165
1000 genomesrs1060503165
hgdprs1060503165
ensemblrs1060503165
gopubmedrs1060503165
geneviewrs1060503165
scholarrs1060503165
googlers1060503165
pharmgkbrs1060503165
gwascentralrs1060503165
openSNPrs1060503165
23andMers1060503165
23andMe allrs1060503165
SNPshotrs1060503165
SNPdbers1060503165
MSV3drs1060503165
GWAS Ctlgrs1060503165
Max Magnitude0
ClinVar
Risk rs1060503165(T;T)
Alt rs1060503165(T;T)
Reference Rs1060503165(C;C)
Significance Pathogenic
Disease Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220283578C>T
CLNSRC
CLNACC RCV000465218.1,