rs137852621
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852621(A;A) |
Make rs137852621(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 50167717 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs137852621 |
dbSNP (classic) | rs137852621 |
ClinGen | rs137852621 |
ebi | rs137852621 |
HLI | rs137852621 |
Exac | rs137852621 |
Gnomad | rs137852621 |
Varsome | rs137852621 |
LitVar | rs137852621 |
Map | rs137852621 |
PheGenI | rs137852621 |
Biobank | rs137852621 |
1000 genomes | rs137852621 |
hgdp | rs137852621 |
ensembl | rs137852621 |
geneview | rs137852621 |
scholar | rs137852621 |
rs137852621 | |
pharmgkb | rs137852621 |
gwascentral | rs137852621 |
openSNP | rs137852621 |
23andMe | rs137852621 |
SNPshot | rs137852621 |
SNPdbe | rs137852621 |
MSV3d | rs137852621 |
GWAS Ctlg | rs137852621 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852621(A;A) rs137852621(C;C) |
Alt | rs137852621(A;A) rs137852621(C;C) |
Reference | Rs137852621(G;G) |
Significance | Other |
Disease | Limb-girdle muscular dystrophy not specified |
Variation | info |
Gene | SGCA |
CLNDBN | Limb-girdle muscular dystrophy, type 2D not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.48245078G>A; NC_000017.10:g.48245078G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010042.6, RCV000280379.1, |