rs201632009
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201632009(A;A) |
Make rs201632009(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 129383212 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs201632009 |
dbSNP (classic) | rs201632009 |
ClinGen | rs201632009 |
ebi | rs201632009 |
HLI | rs201632009 |
Exac | rs201632009 |
Gnomad | rs201632009 |
Varsome | rs201632009 |
LitVar | rs201632009 |
Map | rs201632009 |
PheGenI | rs201632009 |
Biobank | rs201632009 |
1000 genomes | rs201632009 |
hgdp | rs201632009 |
ensembl | rs201632009 |
geneview | rs201632009 |
scholar | rs201632009 |
rs201632009 | |
pharmgkb | rs201632009 |
gwascentral | rs201632009 |
openSNP | rs201632009 |
23andMe | rs201632009 |
SNPshot | rs201632009 |
SNPdbe | rs201632009 |
MSV3d | rs201632009 |
GWAS Ctlg | rs201632009 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201632009(A;A) rs201632009(C;C) rs201632009(T;T) |
Alt | rs201632009(A;A) rs201632009(C;C) rs201632009(T;T) |
Reference | Rs201632009(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.129704357G>T |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000078775.3, RCV000177827.2, |