rs138945081
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138945081(C;T) |
Make rs138945081(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 50167716 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs138945081 |
dbSNP (classic) | rs138945081 |
ClinGen | rs138945081 |
ebi | rs138945081 |
HLI | rs138945081 |
Exac | rs138945081 |
Gnomad | rs138945081 |
Varsome | rs138945081 |
LitVar | rs138945081 |
Map | rs138945081 |
PheGenI | rs138945081 |
Biobank | rs138945081 |
1000 genomes | rs138945081 |
hgdp | rs138945081 |
ensembl | rs138945081 |
geneview | rs138945081 |
scholar | rs138945081 |
rs138945081 | |
pharmgkb | rs138945081 |
gwascentral | rs138945081 |
openSNP | rs138945081 |
23andMe | rs138945081 |
SNPshot | rs138945081 |
SNPdbe | rs138945081 |
MSV3d | rs138945081 |
GWAS Ctlg | rs138945081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138945081(T;T) |
Alt | rs138945081(T;T) |
Reference | Rs138945081(C;C) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | SGCA |
CLNDBN | Limb-girdle muscular dystrophy, type 2D not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.48245077C>T |
CLNSRC | |
CLNACC | RCV000309945.1, RCV000485521.1, |