rs1057516664
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516664(G;T) |
Make rs1057516664(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 50168568 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs1057516664 |
dbSNP (classic) | rs1057516664 |
ClinGen | rs1057516664 |
ebi | rs1057516664 |
HLI | rs1057516664 |
Exac | rs1057516664 |
Gnomad | rs1057516664 |
Varsome | rs1057516664 |
LitVar | rs1057516664 |
Map | rs1057516664 |
PheGenI | rs1057516664 |
Biobank | rs1057516664 |
1000 genomes | rs1057516664 |
hgdp | rs1057516664 |
ensembl | rs1057516664 |
geneview | rs1057516664 |
scholar | rs1057516664 |
rs1057516664 | |
pharmgkb | rs1057516664 |
gwascentral | rs1057516664 |
openSNP | rs1057516664 |
23andMe | rs1057516664 |
SNPshot | rs1057516664 |
SNPdbe | rs1057516664 |
MSV3d | rs1057516664 |
GWAS Ctlg | rs1057516664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516664(T;T) |
Alt | rs1057516664(T;T) |
Reference | Rs1057516664(G;G) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCA |
CLNDBN | Limb-girdle muscular dystrophy, type 2D |
Reversed | 0 |
HGVS | NC_000017.10:g.48245929G>T |
CLNSRC | |
CLNACC | RCV000411377.1, |