rs770617208
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs770617208(G;T) |
Make rs770617208(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 6 |
Position | 129059897 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs770617208 |
dbSNP (classic) | rs770617208 |
ClinGen | rs770617208 |
ebi | rs770617208 |
HLI | rs770617208 |
Exac | rs770617208 |
Gnomad | rs770617208 |
Varsome | rs770617208 |
LitVar | rs770617208 |
Map | rs770617208 |
PheGenI | rs770617208 |
Biobank | rs770617208 |
1000 genomes | rs770617208 |
hgdp | rs770617208 |
ensembl | rs770617208 |
geneview | rs770617208 |
scholar | rs770617208 |
rs770617208 | |
pharmgkb | rs770617208 |
gwascentral | rs770617208 |
openSNP | rs770617208 |
23andMe | rs770617208 |
SNPshot | rs770617208 |
SNPdbe | rs770617208 |
MSV3d | rs770617208 |
GWAS Ctlg | rs770617208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770617208(T;T) |
Alt | rs770617208(T;T) |
Reference | Rs770617208(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.129381042G>T |
CLNSRC | |
CLNACC | RCV000316746.1, |