rs199927590
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199927590(A;G) |
Make rs199927590(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 10797424 |
Gene | DNM2 |
is a | snp |
is | mentioned by |
dbSNP | rs199927590 |
dbSNP (classic) | rs199927590 |
ClinGen | rs199927590 |
ebi | rs199927590 |
HLI | rs199927590 |
Exac | rs199927590 |
Gnomad | rs199927590 |
Varsome | rs199927590 |
LitVar | rs199927590 |
Map | rs199927590 |
PheGenI | rs199927590 |
Biobank | rs199927590 |
1000 genomes | rs199927590 |
hgdp | rs199927590 |
ensembl | rs199927590 |
geneview | rs199927590 |
scholar | rs199927590 |
rs199927590 | |
pharmgkb | rs199927590 |
gwascentral | rs199927590 |
openSNP | rs199927590 |
23andMe | rs199927590 |
SNPshot | rs199927590 |
SNPdbe | rs199927590 |
MSV3d | rs199927590 |
GWAS Ctlg | rs199927590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199927590(G;G) |
Alt | rs199927590(G;G) |
Reference | Rs199927590(A;A) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | DNM2 |
CLNDBN | Charcot-Marie-Tooth disease |
Reversed | 0 |
HGVS | NC_000019.9:g.10908100A>G |
CLNSRC | ClinVar |
CLNACC | RCV000144864.1, |