rs864622501
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864622501(A;A) |
Make rs864622501(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 74361979 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622501 |
dbSNP (classic) | rs864622501 |
ClinGen | rs864622501 |
ebi | rs864622501 |
HLI | rs864622501 |
Exac | rs864622501 |
Gnomad | rs864622501 |
Varsome | rs864622501 |
LitVar | rs864622501 |
Map | rs864622501 |
PheGenI | rs864622501 |
Biobank | rs864622501 |
1000 genomes | rs864622501 |
hgdp | rs864622501 |
ensembl | rs864622501 |
geneview | rs864622501 |
scholar | rs864622501 |
rs864622501 | |
pharmgkb | rs864622501 |
gwascentral | rs864622501 |
openSNP | rs864622501 |
23andMe | rs864622501 |
SNPshot | rs864622501 |
SNPdbe | rs864622501 |
MSV3d | rs864622501 |
GWAS Ctlg | rs864622501 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622501(A;A) |
Alt | rs864622501(A;A) |
Reference | Rs864622501(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | GDAP1 |
CLNDBN | Charcot-Marie-Tooth disease, type 4A |
Reversed | 0 |
HGVS | NC_000008.10:g.75274214G>A |
CLNSRC | |
CLNACC | RCV000204949.1, |