rs143680577
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs143680577(C;G) |
Make rs143680577(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 129098213 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs143680577 |
dbSNP (classic) | rs143680577 |
ClinGen | rs143680577 |
ebi | rs143680577 |
HLI | rs143680577 |
Exac | rs143680577 |
Gnomad | rs143680577 |
Varsome | rs143680577 |
LitVar | rs143680577 |
Map | rs143680577 |
PheGenI | rs143680577 |
Biobank | rs143680577 |
1000 genomes | rs143680577 |
hgdp | rs143680577 |
ensembl | rs143680577 |
geneview | rs143680577 |
scholar | rs143680577 |
rs143680577 | |
pharmgkb | rs143680577 |
gwascentral | rs143680577 |
openSNP | rs143680577 |
23andMe | rs143680577 |
SNPshot | rs143680577 |
SNPdbe | rs143680577 |
MSV3d | rs143680577 |
GWAS Ctlg | rs143680577 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143680577(G;G) rs143680577(T;T) |
Alt | rs143680577(G;G) rs143680577(T;T) |
Reference | Rs143680577(C;C) |
Significance | Probable-Pathogenic |
Disease | Congenital muscular dystrophy |
Variation | info |
Gene | LAMA2 |
CLNDBN | Congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000006.11:g.129419358C>T |
CLNSRC | |
CLNACC | RCV000149982.1, |