rs1064325
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1064325(A;A) |
Make rs1064325(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32345999 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs1064325 |
dbSNP (classic) | rs1064325 |
ClinGen | rs1064325 |
ebi | rs1064325 |
HLI | rs1064325 |
Exac | rs1064325 |
Gnomad | rs1064325 |
Varsome | rs1064325 |
LitVar | rs1064325 |
Map | rs1064325 |
PheGenI | rs1064325 |
Biobank | rs1064325 |
1000 genomes | rs1064325 |
hgdp | rs1064325 |
ensembl | rs1064325 |
geneview | rs1064325 |
scholar | rs1064325 |
rs1064325 | |
pharmgkb | rs1064325 |
gwascentral | rs1064325 |
openSNP | rs1064325 |
23andMe | rs1064325 |
SNPshot | rs1064325 |
SNPdbe | rs1064325 |
MSV3d | rs1064325 |
GWAS Ctlg | rs1064325 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1064325(A;A) rs1064325(T;T) |
Alt | rs1064325(A;A) rs1064325(T;T) |
Reference | Rs1064325(C;C) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not specified |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not specified |
Reversed | 1 |
HGVS | NC_000023.10:g.32364116G>A; NC_000023.10:g.32364116G>T |
CLNSRC | HGMD |
CLNACC | RCV000080659.4, RCV000178000.1, RCV000178001.1, RCV000355492.1, |