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rs587780494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587780494(-;TGTAAGGAAACAGACA)
Make rs587780494(TGTAAGGAAACAGACA;TGTAAGGAAACAGACA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178775155
GeneLOC101927055, TTN
is asnp
is mentioned by
dbSNPrs587780494
dbSNP (old)rs587780494
ClinGenrs587780494
ebirs587780494
HLIrs587780494
Exacrs587780494
Gnomadrs587780494
Varsomers587780494
Maprs587780494
PheGenIrs587780494
Biobankrs587780494
1000 genomesrs587780494
hgdprs587780494
ensemblrs587780494
gopubmedrs587780494
geneviewrs587780494
scholarrs587780494
googlers587780494
pharmgkbrs587780494
gwascentralrs587780494
openSNPrs587780494
23andMers587780494
23andMe allrs587780494
SNP Nexus

SNPshotrs587780494
SNPdbers587780494
MSV3drs587780494
GWAS Ctlgrs587780494
Max Magnitude0
ClinVar
Risk rs587780494(TGTAAGGAAACAGACA;TGTAAGGAAACAGACA)
Alt rs587780494(TGTAAGGAAACAGACA;TGTAAGGAAACAGACA)
Reference Rs587780494(-;-)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type not specified
Variation info
Gene TTN LOC101927055
CLNDBN Distal myopathy Markesbery-Griggs type not specified
Reversed 1
HGVS NC_000002.11:g.179639882_179639883insTGTCTGTTTCCTTACA
CLNSRC
CLNACC RCV000118780.1, RCV000298392.1,