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rs61130669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61130669(G;T)
Make rs61130669(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position219421511
GeneDES
is asnp
is mentioned by
dbSNPrs61130669
dbSNP (classic)rs61130669
ClinGenrs61130669
ebirs61130669
HLIrs61130669
Exacrs61130669
Gnomadrs61130669
Varsomers61130669
LitVarrs61130669
Maprs61130669
PheGenIrs61130669
Biobankrs61130669
1000 genomesrs61130669
hgdprs61130669
ensemblrs61130669
geneviewrs61130669
scholarrs61130669
googlers61130669
pharmgkbrs61130669
gwascentralrs61130669
openSNPrs61130669
23andMers61130669
SNPshotrs61130669
SNPdbers61130669
MSV3drs61130669
GWAS Ctlgrs61130669
Max Magnitude0
ClinVar
Risk rs61130669(T;T)
Alt rs61130669(T;T)
Reference Rs61130669(G;G)
Significance Probable-Pathogenic
Disease not provided Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN not provided Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220286233G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056779.1, RCV000449603.1,