rs372277017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs372277017(A;A) |
Make rs372277017(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 178733497 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs372277017 |
dbSNP (classic) | rs372277017 |
ClinGen | rs372277017 |
ebi | rs372277017 |
HLI | rs372277017 |
Exac | rs372277017 |
Gnomad | rs372277017 |
Varsome | rs372277017 |
LitVar | rs372277017 |
Map | rs372277017 |
PheGenI | rs372277017 |
Biobank | rs372277017 |
1000 genomes | rs372277017 |
hgdp | rs372277017 |
ensembl | rs372277017 |
geneview | rs372277017 |
scholar | rs372277017 |
rs372277017 | |
pharmgkb | rs372277017 |
gwascentral | rs372277017 |
openSNP | rs372277017 |
23andMe | rs372277017 |
SNPshot | rs372277017 |
SNPdbe | rs372277017 |
MSV3d | rs372277017 |
GWAS Ctlg | rs372277017 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372277017(A;A) |
Alt | rs372277017(A;A) |
Reference | Rs372277017(G;G) |
Significance | Pathogenic |
Disease | Distal myopathy Markesbery-Griggs type |
Variation | info |
Gene | TTN |
CLNDBN | Distal myopathy Markesbery-Griggs type |
Reversed | 0 |
HGVS | NC_000002.11:g.179598224G>A |
CLNSRC | ClinVar |
CLNACC | RCV000118735.1, |