rs138902646
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138902646(C;T) |
Make rs138902646(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 131523025 |
Gene | POMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs138902646 |
dbSNP (classic) | rs138902646 |
ClinGen | rs138902646 |
ebi | rs138902646 |
HLI | rs138902646 |
Exac | rs138902646 |
Gnomad | rs138902646 |
Varsome | rs138902646 |
LitVar | rs138902646 |
Map | rs138902646 |
PheGenI | rs138902646 |
Biobank | rs138902646 |
1000 genomes | rs138902646 |
hgdp | rs138902646 |
ensembl | rs138902646 |
geneview | rs138902646 |
scholar | rs138902646 |
rs138902646 | |
pharmgkb | rs138902646 |
gwascentral | rs138902646 |
openSNP | rs138902646 |
23andMe | rs138902646 |
SNPshot | rs138902646 |
SNPdbe | rs138902646 |
MSV3d | rs138902646 |
GWAS Ctlg | rs138902646 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138902646(A;A) rs138902646(T;T) |
Alt | rs138902646(A;A) rs138902646(T;T) |
Reference | Rs138902646(C;C) |
Significance | Other |
Disease | Limb-girdle muscular dystrophy-dystroglycanopathy not specified |
Variation | info |
Gene | POMT1 |
CLNDBN | Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 not specified |
Reversed | 0 |
HGVS | NC_000009.11:g.134398412C>A; NC_000009.11:g.134398412C>T |
CLNSRC | |
CLNACC | RCV000176088.2, RCV000176086.3, |