rs797045427
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs797045427(-;CC) |
Make rs797045427(CC;CC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 42384501 |
Gene | CAPN3, LOC105370794 |
is a | snp |
is | mentioned by |
dbSNP | rs797045427 |
dbSNP (classic) | rs797045427 |
ClinGen | rs797045427 |
ebi | rs797045427 |
HLI | rs797045427 |
Exac | rs797045427 |
Gnomad | rs797045427 |
Varsome | rs797045427 |
LitVar | rs797045427 |
Map | rs797045427 |
PheGenI | rs797045427 |
Biobank | rs797045427 |
1000 genomes | rs797045427 |
hgdp | rs797045427 |
ensembl | rs797045427 |
geneview | rs797045427 |
scholar | rs797045427 |
rs797045427 | |
pharmgkb | rs797045427 |
gwascentral | rs797045427 |
openSNP | rs797045427 |
23andMe | rs797045427 |
SNPshot | rs797045427 |
SNPdbe | rs797045427 |
MSV3d | rs797045427 |
GWAS Ctlg | rs797045427 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045427(CC;CC) |
Alt | rs797045427(CC;CC) |
Reference | Rs797045427(-;-) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | CAPN3 |
CLNDBN | Limb-girdle muscular dystrophy, type 2A |
Reversed | 0 |
HGVS | NC_000015.9:g.42676698_42676699dupCC |
CLNSRC | |
CLNACC | RCV000192648.2, |