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rs199469666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199469666(-;-)
Make rs199469666(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position178529183
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs199469666
ebirs199469666
HLIrs199469666
Exacrs199469666
Varsomers199469666
Maprs199469666
PheGenIrs199469666
hapmaprs199469666
1000 genomesrs199469666
hgdprs199469666
ensemblrs199469666
gopubmedrs199469666
geneviewrs199469666
scholarrs199469666
googlers199469666
pharmgkbrs199469666
gwascentralrs199469666
openSNPrs199469666
23andMers199469666
23andMe allrs199469666
SNP Nexus

SNPshotrs199469666
SNPdbers199469666
MSV3drs199469666
GWAS Ctlgrs199469666
Max Magnitude0
ClinVar
Risk rs199469666(;)
Alt rs199469666(;)
Reference rs199469666(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Myopathy, early-onset, with fatal cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179393910delT
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000013496.23,


[PMID 17444505] C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.