rs281864931
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs281864931(A;C) |
Make rs281864931(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 178527151 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs281864931 |
dbSNP (classic) | rs281864931 |
ClinGen | rs281864931 |
ebi | rs281864931 |
HLI | rs281864931 |
Exac | rs281864931 |
Gnomad | rs281864931 |
Varsome | rs281864931 |
LitVar | rs281864931 |
Map | rs281864931 |
PheGenI | rs281864931 |
Biobank | rs281864931 |
1000 genomes | rs281864931 |
hgdp | rs281864931 |
ensembl | rs281864931 |
geneview | rs281864931 |
scholar | rs281864931 |
rs281864931 | |
pharmgkb | rs281864931 |
gwascentral | rs281864931 |
openSNP | rs281864931 |
23andMe | rs281864931 |
SNPshot | rs281864931 |
SNPdbe | rs281864931 |
MSV3d | rs281864931 |
GWAS Ctlg | rs281864931 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281864931(C;C) |
Alt | rs281864931(C;C) |
Reference | Rs281864931(A;A) |
Significance | 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.179391878T>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031994.2, |
[PMID 19911250] The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.