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rs527221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs527221(C;C)
Make rs527221(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45772718
GeneDMPK
is asnp
is mentioned by
dbSNPrs527221
ebirs527221
HLIrs527221
Exacrs527221
Varsomers527221
Maprs527221
PheGenIrs527221
hapmaprs527221
1000 genomesrs527221
hgdprs527221
ensemblrs527221
gopubmedrs527221
geneviewrs527221
scholarrs527221
googlers527221
pharmgkbrs527221
gwascentralrs527221
openSNPrs527221
23andMers527221
23andMe allrs527221
SNP Nexus

SNPshotrs527221
SNPdbers527221
MSV3drs527221
GWAS Ctlgrs527221
GMAF0.1217
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene DMPK
allele C
frequency 0.092
sift TOLERATED
HuRef 1103691154917
Disease Association Defects in DMPK are the cause of myotonic dystrophy 1 (DM1) (MIM:160900); also known as Steinert disease. DM is an autosomal dominant neurodegenerative disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness, and cardiac arrhythmias. DM patients show decreased levels of kinase expression inversely related to repeat length. The minimum estimated incidence is 1 in 8'000 live births. DM1 is caused by a CTG expansion in the 3' untranslated region of the DMPK gene. The repeat length usually increases in successive generations, but not always.


GET Evidence
DMPK-L423V
aa_change Leu423Val
aa_change_short L423V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0951097
summary


ClinVar
Risk rs527221(C;C)
Alt rs527221(C;C)
Reference rs527221(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DMPK
CLNDBN not specified
Reversed 0
HGVS NC_000019.9:g.46275976G>C
CLNSRC ClinVar
CLNACC RCV000116883.1,