rs1801187
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1801187(A;A) |
Make rs1801187(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 32362879 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs1801187 |
dbSNP (classic) | rs1801187 |
ClinGen | rs1801187 |
ebi | rs1801187 |
HLI | rs1801187 |
Exac | rs1801187 |
Gnomad | rs1801187 |
Varsome | rs1801187 |
LitVar | rs1801187 |
Map | rs1801187 |
PheGenI | rs1801187 |
Biobank | rs1801187 |
1000 genomes | rs1801187 |
hgdp | rs1801187 |
ensembl | rs1801187 |
geneview | rs1801187 |
scholar | rs1801187 |
rs1801187 | |
pharmgkb | rs1801187 |
gwascentral | rs1801187 |
openSNP | rs1801187 |
23andMe | rs1801187 |
SNPshot | rs1801187 |
SNPdbe | rs1801187 |
MSV3d | rs1801187 |
GWAS Ctlg | rs1801187 |
GMAF | 0.448 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1801187(A;A) |
Alt | rs1801187(A;A) |
Reference | Rs1801187(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Cardiovascular phenotype Dilated cardiomyopathy 3B |
Variation | info |
Gene | DMD |
CLNDBN | not specified Cardiovascular phenotype Dilated cardiomyopathy 3B |
Reversed | 1 |
HGVS | NC_000023.10:g.32380996C>T |
CLNSRC | ClinVar Emory University GeneDx |
CLNACC | RCV000080647.8, RCV000251070.1, RCV000365312.1, |