Have questions? Visit https://www.reddit.com/r/SNPedia

rs6890689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(C;C) 0 common in complete genomics
Make rs6890689(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870871
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs6890689
ebirs6890689
HLIrs6890689
Exacrs6890689
Varsomers6890689
Maprs6890689
PheGenIrs6890689
hapmaprs6890689
1000 genomesrs6890689
hgdprs6890689
ensemblrs6890689
gopubmedrs6890689
geneviewrs6890689
scholarrs6890689
googlers6890689
pharmgkbrs6890689
gwascentralrs6890689
openSNPrs6890689
23andMers6890689
23andMe allrs6890689
SNP Nexus

SNPshotrs6890689
SNPdbers6890689
MSV3drs6890689
GWAS Ctlgrs6890689
GMAF0.01194
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene MYOT
allele C
frequency 1
sift TOLERATED
HuRef 1103654235211
Disease Association Defects in MYOT are the cause of myotilinopathy (MIM:609200); also known as myofibrillar myopathy. Onset of the disorder is within a mean age of 59 years and is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, evidence for some patients of hyporeflexia, cardiomyopathy and peripheral neuropathy. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of TTID and other ectopically expressed proteins and prominent congophilic deposits.



Neighborrs28937597
Distance50


GET Evidence
MYOT-K74Q
aa_change Lys74Gln
aa_change_short K74Q
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.985406
summary The A allele is associated with myotilinopathy. It was found in two individuals, one of whom involved weakness of the pectoralis muscles.



ClinVar
Risk rs6890689(C;C)
Alt rs6890689(C;C)
Reference rs6890689(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYOT LOC101928005
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.137206560A>C
CLNSRC HGMD
CLNACC RCV000153527.3,