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rs138060032

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138060032(A;A)
Make rs138060032(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position178799566
GeneTTN
is asnp
is mentioned by
dbSNPrs138060032
ebirs138060032
HLIrs138060032
Exacrs138060032
Varsomers138060032
Maprs138060032
PheGenIrs138060032
hapmaprs138060032
1000 genomesrs138060032
hgdprs138060032
ensemblrs138060032
gopubmedrs138060032
geneviewrs138060032
scholarrs138060032
googlers138060032
pharmgkbrs138060032
gwascentralrs138060032
openSNPrs138060032
23andMers138060032
23andMe allrs138060032
SNP Nexus

SNPshotrs138060032
SNPdbers138060032
MSV3drs138060032
GWAS Ctlgrs138060032
Max Magnitude0
ClinVar
Risk rs138060032(A;A)
Alt rs138060032(A;A)
Reference rs138060032(G;G)
Significance Pathogenic
Disease Hereditary myopathy with early respiratory failure not provided not specified
Variation info
Gene TTN
CLNDBN Hereditary myopathy with early respiratory failure not provided not specified
Reversed 0
HGVS NC_000002.11:g.179664293G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013495.24, RCV000172493.2, RCV000219791.1,