rs864309705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | DNM2-related intermediate Charcot-Marie-Tooth neuropathy |
(G;G) | 0 | common in clinvar |
Make rs864309705(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 10793748 |
Gene | DNM2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309705 |
dbSNP (classic) | rs864309705 |
ClinGen | rs864309705 |
ebi | rs864309705 |
HLI | rs864309705 |
Exac | rs864309705 |
Gnomad | rs864309705 |
Varsome | rs864309705 |
LitVar | rs864309705 |
Map | rs864309705 |
PheGenI | rs864309705 |
Biobank | rs864309705 |
1000 genomes | rs864309705 |
hgdp | rs864309705 |
ensembl | rs864309705 |
geneview | rs864309705 |
scholar | rs864309705 |
rs864309705 | |
pharmgkb | rs864309705 |
gwascentral | rs864309705 |
openSNP | rs864309705 |
23andMe | rs864309705 |
SNPshot | rs864309705 |
SNPdbe | rs864309705 |
MSV3d | rs864309705 |
GWAS Ctlg | rs864309705 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs864309705(A;A) |
Alt | rs864309705(A;A) |
Reference | Rs864309705(G;G) |
Significance | Probable-Pathogenic |
Disease | DNM2-related intermediate Charcot-Marie-Tooth neuropathy |
Variation | info |
Gene | DNM2 |
CLNDBN | DNM2-related intermediate Charcot-Marie-Tooth neuropathy |
Reversed | 0 |
HGVS | NC_000019.9:g.10904424G>A |
CLNSRC | |
CLNACC | RCV000203274.1, |