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rs199469665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTGACCA;AGTGACCA) 0 common in clinvar
(CCAAGTGA;CCAAGTGA) 0 common in clinvar
Make rs199469665(-;-)
Make rs199469665(-;ACCAAGTG)
Make rs199469665(ACCAAGTG;ACCAAGTG)
ReferenceGRCh38 38.1/141
Chromosome2
Position178531084
GeneLGR4, TTN
is asnp
is mentioned by
dbSNPrs199469665
ebirs199469665
HLIrs199469665
Exacrs199469665
Varsomers199469665
Maprs199469665
PheGenIrs199469665
hapmaprs199469665
1000 genomesrs199469665
hgdprs199469665
ensemblrs199469665
gopubmedrs199469665
geneviewrs199469665
scholarrs199469665
googlers199469665
pharmgkbrs199469665
gwascentralrs199469665
openSNPrs199469665
23andMers199469665
23andMe allrs199469665
SNP Nexus

SNPshotrs199469665
SNPdbers199469665
MSV3drs199469665
GWAS Ctlgrs199469665
Max Magnitude0
ClinVar
Risk rs199469665(;)
Alt rs199469665(;)
Reference rs199469665(AGTGACCA;AGTGACCA)
Significance Pathogenic
Disease Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Myopathy, early-onset, with fatal cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179395811_179395818delCACTTGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013497.22,


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