rs863224520
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224520(-;-) |
Make rs863224520(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 149028070 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224520 |
dbSNP (classic) | rs863224520 |
ClinGen | rs863224520 |
ebi | rs863224520 |
HLI | rs863224520 |
Exac | rs863224520 |
Gnomad | rs863224520 |
Varsome | rs863224520 |
LitVar | rs863224520 |
Map | rs863224520 |
PheGenI | rs863224520 |
Biobank | rs863224520 |
1000 genomes | rs863224520 |
hgdp | rs863224520 |
ensembl | rs863224520 |
geneview | rs863224520 |
scholar | rs863224520 |
rs863224520 | |
pharmgkb | rs863224520 |
gwascentral | rs863224520 |
openSNP | rs863224520 |
23andMe | rs863224520 |
SNPshot | rs863224520 |
SNPdbe | rs863224520 |
MSV3d | rs863224520 |
GWAS Ctlg | rs863224520 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224520(-;-) |
Alt | rs863224520(-;-) |
Reference | Rs863224520(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.148407633delG |
CLNSRC | |
CLNACC | RCV000198786.1, |