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rs267607156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607156(C;C)
Make rs267607156(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178527121
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs267607156
ebirs267607156
HLIrs267607156
Exacrs267607156
Varsomers267607156
Maprs267607156
PheGenIrs267607156
hapmaprs267607156
1000 genomesrs267607156
hgdprs267607156
ensemblrs267607156
gopubmedrs267607156
geneviewrs267607156
scholarrs267607156
googlers267607156
pharmgkbrs267607156
gwascentralrs267607156
openSNPrs267607156
23andMers267607156
23andMe allrs267607156
SNP Nexus

SNPshotrs267607156
SNPdbers267607156
MSV3drs267607156
GWAS Ctlgrs267607156
Max Magnitude0
ClinVar
Risk rs267607156(C;C)
Alt rs267607156(C;C)
Reference rs267607156(T;T)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type
Variation info
Gene TTN TTN-AS1
CLNDBN Distal myopathy Markesbery-Griggs type
Reversed 1
HGVS NC_000002.11:g.179391848A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013489.25,


[PMID 12145747OA-icon.png] Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.