Have questions? Visit https://www.reddit.com/r/SNPedia

rs587780490

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780490(C;T)
Make rs587780490(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178776817
GeneLOC101927055, TTN
is asnp
is mentioned by
dbSNPrs587780490
ebirs587780490
HLIrs587780490
Exacrs587780490
Varsomers587780490
Maprs587780490
PheGenIrs587780490
hapmaprs587780490
1000 genomesrs587780490
hgdprs587780490
ensemblrs587780490
gopubmedrs587780490
geneviewrs587780490
scholarrs587780490
googlers587780490
pharmgkbrs587780490
gwascentralrs587780490
openSNPrs587780490
23andMers587780490
23andMe allrs587780490
SNP Nexus

SNPshotrs587780490
SNPdbers587780490
MSV3drs587780490
GWAS Ctlgrs587780490
Max Magnitude0
ClinVar
Risk rs587780490(T;T)
Alt rs587780490(T;T)
Reference rs587780490(C;C)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type
Variation info
Gene TTN LOC101927055
CLNDBN Distal myopathy Markesbery-Griggs type
Reversed 1
HGVS NC_000002.11:g.179641544G>A
CLNSRC
CLNACC RCV000118769.1,