rs878855092
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCTCTGTCCAGCAACATGG;CCTCTGTCCAGCAACATGG) | 0 | common in clinvar |
Make rs878855092(-;-) |
Make rs878855092(-;CCTCTGTCCAGCAACATGG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 149027642 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs878855092 |
dbSNP (classic) | rs878855092 |
ClinGen | rs878855092 |
ebi | rs878855092 |
HLI | rs878855092 |
Exac | rs878855092 |
Gnomad | rs878855092 |
Varsome | rs878855092 |
LitVar | rs878855092 |
Map | rs878855092 |
PheGenI | rs878855092 |
Biobank | rs878855092 |
1000 genomes | rs878855092 |
hgdp | rs878855092 |
ensembl | rs878855092 |
geneview | rs878855092 |
scholar | rs878855092 |
rs878855092 | |
pharmgkb | rs878855092 |
gwascentral | rs878855092 |
openSNP | rs878855092 |
23andMe | rs878855092 |
SNPshot | rs878855092 |
SNPdbe | rs878855092 |
MSV3d | rs878855092 |
GWAS Ctlg | rs878855092 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855092(-;-) |
Alt | rs878855092(-;-) |
Reference | Rs878855092(CCTCTGTCCAGCAACATGG;CCTCTGTCCAGCAACATGG) |
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.148407205_148407223del19 |
CLNSRC | |
CLNACC | RCV000227528.1, |