rs398123375
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123375(A;A) |
Make rs398123375(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 129349385 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs398123375 |
dbSNP (classic) | rs398123375 |
ClinGen | rs398123375 |
ebi | rs398123375 |
HLI | rs398123375 |
Exac | rs398123375 |
Gnomad | rs398123375 |
Varsome | rs398123375 |
LitVar | rs398123375 |
Map | rs398123375 |
PheGenI | rs398123375 |
Biobank | rs398123375 |
1000 genomes | rs398123375 |
hgdp | rs398123375 |
ensembl | rs398123375 |
geneview | rs398123375 |
scholar | rs398123375 |
rs398123375 | |
pharmgkb | rs398123375 |
gwascentral | rs398123375 |
openSNP | rs398123375 |
23andMe | rs398123375 |
SNPshot | rs398123375 |
SNPdbe | rs398123375 |
MSV3d | rs398123375 |
GWAS Ctlg | rs398123375 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123375(A;A) |
Alt | rs398123375(A;A) |
Reference | Rs398123375(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.129670530G>A |
CLNSRC | ClinVar |
CLNACC | RCV000078772.3, RCV000177512.1, |