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rs587780495

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780495(C;C)
Make rs587780495(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178539459
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs587780495
ebirs587780495
HLIrs587780495
Exacrs587780495
Varsomers587780495
Maprs587780495
PheGenIrs587780495
hapmaprs587780495
1000 genomesrs587780495
hgdprs587780495
ensemblrs587780495
gopubmedrs587780495
geneviewrs587780495
scholarrs587780495
googlers587780495
pharmgkbrs587780495
gwascentralrs587780495
openSNPrs587780495
23andMers587780495
23andMe allrs587780495
SNP Nexus

SNPshotrs587780495
SNPdbers587780495
MSV3drs587780495
GWAS Ctlgrs587780495
Max Magnitude0
ClinVar
Risk rs587780495(A,C;A,C)
Alt rs587780495(A,C;A,C)
Reference rs587780495(G;G)
Significance Probable-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.179404186C>G
CLNSRC
CLNACC RCV000118795.1,