rs759555791
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs759555791(A;A) |
Make rs759555791(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 129288059 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs759555791 |
dbSNP (classic) | rs759555791 |
ClinGen | rs759555791 |
ebi | rs759555791 |
HLI | rs759555791 |
Exac | rs759555791 |
Gnomad | rs759555791 |
Varsome | rs759555791 |
LitVar | rs759555791 |
Map | rs759555791 |
PheGenI | rs759555791 |
Biobank | rs759555791 |
1000 genomes | rs759555791 |
hgdp | rs759555791 |
ensembl | rs759555791 |
geneview | rs759555791 |
scholar | rs759555791 |
rs759555791 | |
pharmgkb | rs759555791 |
gwascentral | rs759555791 |
openSNP | rs759555791 |
23andMe | rs759555791 |
SNPshot | rs759555791 |
SNPdbe | rs759555791 |
MSV3d | rs759555791 |
GWAS Ctlg | rs759555791 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759555791(A;A) rs759555791(C;C) |
Alt | rs759555791(A;A) rs759555791(C;C) |
Reference | Rs759555791(G;G) |
Significance | Pathogenic |
Disease | Merosin deficient congenital muscular dystrophy |
Variation | info |
Gene | LAMA2 |
CLNDBN | Merosin deficient congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000006.11:g.129609204G>C |
CLNSRC | |
CLNACC | RCV000175397.1, |