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rs267607486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607486(C;C)
Make rs267607486(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position219420346
GeneDES
is asnp
is mentioned by
dbSNPrs267607486
dbSNP (old)rs267607486
ClinGenrs267607486
ebirs267607486
HLIrs267607486
Exacrs267607486
Gnomadrs267607486
Varsomers267607486
Maprs267607486
PheGenIrs267607486
Biobankrs267607486
1000 genomesrs267607486
hgdprs267607486
ensemblrs267607486
gopubmedrs267607486
geneviewrs267607486
scholarrs267607486
googlers267607486
pharmgkbrs267607486
gwascentralrs267607486
openSNPrs267607486
23andMers267607486
23andMe allrs267607486
SNPshotrs267607486
SNPdbers267607486
MSV3drs267607486
GWAS Ctlgrs267607486
Max Magnitude0
ClinVar
Risk rs267607486(A;A) rs267607486(C;C)
Alt rs267607486(A;A) rs267607486(C;C)
Reference Rs267607486(G;G)
Significance Pathogenic
Disease Myofibrillar myopathy 1 not provided
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220285068G>A; NC_000002.11:g.220285068G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000398561.1, RCV000489159.1, RCV000056811.1, RCV000304899.1,