rs149095128
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149095128(A;A) |
Make rs149095128(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 42411299 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs149095128 |
dbSNP (classic) | rs149095128 |
ClinGen | rs149095128 |
ebi | rs149095128 |
HLI | rs149095128 |
Exac | rs149095128 |
Gnomad | rs149095128 |
Varsome | rs149095128 |
LitVar | rs149095128 |
Map | rs149095128 |
PheGenI | rs149095128 |
Biobank | rs149095128 |
1000 genomes | rs149095128 |
hgdp | rs149095128 |
ensembl | rs149095128 |
geneview | rs149095128 |
scholar | rs149095128 |
rs149095128 | |
pharmgkb | rs149095128 |
gwascentral | rs149095128 |
openSNP | rs149095128 |
23andMe | rs149095128 |
SNPshot | rs149095128 |
SNPdbe | rs149095128 |
MSV3d | rs149095128 |
GWAS Ctlg | rs149095128 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149095128(A;A) |
Alt | rs149095128(A;A) |
Reference | Rs149095128(C;C) |
Significance | Other |
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.42703497C>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078095.4, RCV000201145.2, |