rs863224875
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863224875(-;-) |
Make rs863224875(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 74350523 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224875 |
dbSNP (classic) | rs863224875 |
ClinGen | rs863224875 |
ebi | rs863224875 |
HLI | rs863224875 |
Exac | rs863224875 |
Gnomad | rs863224875 |
Varsome | rs863224875 |
LitVar | rs863224875 |
Map | rs863224875 |
PheGenI | rs863224875 |
Biobank | rs863224875 |
1000 genomes | rs863224875 |
hgdp | rs863224875 |
ensembl | rs863224875 |
geneview | rs863224875 |
scholar | rs863224875 |
rs863224875 | |
pharmgkb | rs863224875 |
gwascentral | rs863224875 |
openSNP | rs863224875 |
23andMe | rs863224875 |
SNPshot | rs863224875 |
SNPdbe | rs863224875 |
MSV3d | rs863224875 |
GWAS Ctlg | rs863224875 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224875(-;-) |
Alt | rs863224875(-;-) |
Reference | Rs863224875(A;A) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
Variation | info |
Gene | GDAP1 |
CLNDBN | Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease, type 4A |
Reversed | 0 |
HGVS | NC_000008.10:g.75262758delA |
CLNSRC | |
CLNACC | RCV000196703.1, |