rs398123385
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs398123385(-;-) |
Make rs398123385(-;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 129465268 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs398123385 |
dbSNP (classic) | rs398123385 |
ClinGen | rs398123385 |
ebi | rs398123385 |
HLI | rs398123385 |
Exac | rs398123385 |
Gnomad | rs398123385 |
Varsome | rs398123385 |
LitVar | rs398123385 |
Map | rs398123385 |
PheGenI | rs398123385 |
Biobank | rs398123385 |
1000 genomes | rs398123385 |
hgdp | rs398123385 |
ensembl | rs398123385 |
geneview | rs398123385 |
scholar | rs398123385 |
rs398123385 | |
pharmgkb | rs398123385 |
gwascentral | rs398123385 |
openSNP | rs398123385 |
23andMe | rs398123385 |
SNPshot | rs398123385 |
SNPdbe | rs398123385 |
MSV3d | rs398123385 |
GWAS Ctlg | rs398123385 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123385(-;-) |
Alt | rs398123385(-;-) |
Reference | Rs398123385(CT;CT) |
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.129786413_129786414delCT |
CLNSRC | ClinVar |
CLNACC | RCV000078795.3, RCV000179084.1, |