rs864622663
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864622663(C;T) |
Make rs864622663(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 149047930 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622663 |
dbSNP (classic) | rs864622663 |
ClinGen | rs864622663 |
ebi | rs864622663 |
HLI | rs864622663 |
Exac | rs864622663 |
Gnomad | rs864622663 |
Varsome | rs864622663 |
LitVar | rs864622663 |
Map | rs864622663 |
PheGenI | rs864622663 |
Biobank | rs864622663 |
1000 genomes | rs864622663 |
hgdp | rs864622663 |
ensembl | rs864622663 |
geneview | rs864622663 |
scholar | rs864622663 |
rs864622663 | |
pharmgkb | rs864622663 |
gwascentral | rs864622663 |
openSNP | rs864622663 |
23andMe | rs864622663 |
SNPshot | rs864622663 |
SNPdbe | rs864622663 |
MSV3d | rs864622663 |
GWAS Ctlg | rs864622663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622663(T;T) |
Alt | rs864622663(T;T) |
Reference | Rs864622663(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SH3TC2 |
CLNDBN | Charcot-Marie-Tooth disease, type IV |
Reversed | 1 |
HGVS | NC_000005.9:g.148427493G>A |
CLNSRC | |
CLNACC | RCV000203755.1, |