rs398123150
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398123150(-;GTTGATTGCA) |
Make rs398123150(GTTGATTGCA;GTTGATTGCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 42390015 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs398123150 |
dbSNP (classic) | rs398123150 |
ClinGen | rs398123150 |
ebi | rs398123150 |
HLI | rs398123150 |
Exac | rs398123150 |
Gnomad | rs398123150 |
Varsome | rs398123150 |
LitVar | rs398123150 |
Map | rs398123150 |
PheGenI | rs398123150 |
Biobank | rs398123150 |
1000 genomes | rs398123150 |
hgdp | rs398123150 |
ensembl | rs398123150 |
geneview | rs398123150 |
scholar | rs398123150 |
rs398123150 | |
pharmgkb | rs398123150 |
gwascentral | rs398123150 |
openSNP | rs398123150 |
23andMe | rs398123150 |
SNPshot | rs398123150 |
SNPdbe | rs398123150 |
MSV3d | rs398123150 |
GWAS Ctlg | rs398123150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123150(AGTTGATTGC;AGTTGATTGC) |
Alt | rs398123150(AGTTGATTGC;AGTTGATTGC) |
Reference | Rs398123150(-;-) |
Significance | Pathogenic |
Disease | not provided Limb-girdle muscular dystrophy |
Variation | info |
Gene | CAPN3 |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2A |
Reversed | 0 |
HGVS | NC_000015.9:g.42682204_42682213dupGTTGATTGCA |
CLNSRC | ClinVar |
CLNACC | RCV000078103.3, RCV000179249.1, |