rs9492297
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs9492297(A;A) |
Make rs9492297(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 129291613 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs9492297 |
dbSNP (classic) | rs9492297 |
ClinGen | rs9492297 |
ebi | rs9492297 |
HLI | rs9492297 |
Exac | rs9492297 |
Gnomad | rs9492297 |
Varsome | rs9492297 |
LitVar | rs9492297 |
Map | rs9492297 |
PheGenI | rs9492297 |
Biobank | rs9492297 |
1000 genomes | rs9492297 |
hgdp | rs9492297 |
ensembl | rs9492297 |
geneview | rs9492297 |
scholar | rs9492297 |
rs9492297 | |
pharmgkb | rs9492297 |
gwascentral | rs9492297 |
openSNP | rs9492297 |
23andMe | rs9492297 |
SNPshot | rs9492297 |
SNPdbe | rs9492297 |
MSV3d | rs9492297 |
GWAS Ctlg | rs9492297 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs9492297(A;A) rs9492297(C;C) |
Alt | rs9492297(A;A) rs9492297(C;C) |
Reference | Rs9492297(G;G) |
Significance | Pathogenic |
Disease | not provided Merosin deficient congenital muscular dystrophy |
Variation | info |
Gene | LAMA2 |
CLNDBN | not provided Merosin deficient congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000006.11:g.129612758G>C |
CLNSRC | HGMD |
CLNACC | RCV000078757.3, RCV000176037.1, |