rs1800280
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common on affy axiom data |
(G;G) | 0 | common in clinvar |
(T;T) | 0 |
Make rs1800280(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 31478233 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs1800280 |
dbSNP (classic) | rs1800280 |
ClinGen | rs1800280 |
ebi | rs1800280 |
HLI | rs1800280 |
Exac | rs1800280 |
Gnomad | rs1800280 |
Varsome | rs1800280 |
LitVar | rs1800280 |
Map | rs1800280 |
PheGenI | rs1800280 |
Biobank | rs1800280 |
1000 genomes | rs1800280 |
hgdp | rs1800280 |
ensembl | rs1800280 |
geneview | rs1800280 |
scholar | rs1800280 |
rs1800280 | |
pharmgkb | rs1800280 |
gwascentral | rs1800280 |
openSNP | rs1800280 |
23andMe | rs1800280 |
SNPshot | rs1800280 |
SNPdbe | rs1800280 |
MSV3d | rs1800280 |
GWAS Ctlg | rs1800280 |
GMAF | 0.06348 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs1800280(A;A) |
Alt | Rs1800280(A;A) |
Reference | Rs1800280(G;G) |
Significance | Non-pathogenic |
Disease | not specified Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | not specified Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.31496350C\x3d; NC_000023.10:g.31496350C>T |
CLNSRC | HGMD |
CLNACC | RCV000124712.2, RCV000206630.3, RCV000152765.5, |