rs879253859
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs879253859(-;T) |
Make rs879253859(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 149038475 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs879253859 |
dbSNP (classic) | rs879253859 |
ClinGen | rs879253859 |
ebi | rs879253859 |
HLI | rs879253859 |
Exac | rs879253859 |
Gnomad | rs879253859 |
Varsome | rs879253859 |
LitVar | rs879253859 |
Map | rs879253859 |
PheGenI | rs879253859 |
Biobank | rs879253859 |
1000 genomes | rs879253859 |
hgdp | rs879253859 |
ensembl | rs879253859 |
geneview | rs879253859 |
scholar | rs879253859 |
rs879253859 | |
pharmgkb | rs879253859 |
gwascentral | rs879253859 |
openSNP | rs879253859 |
23andMe | rs879253859 |
SNPshot | rs879253859 |
SNPdbe | rs879253859 |
MSV3d | rs879253859 |
GWAS Ctlg | rs879253859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253859(T;T) |
Alt | rs879253859(T;T) |
Reference | Rs879253859(-;-) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SH3TC2 |
CLNDBN | Charcot-Marie-Tooth disease, type 4C |
Reversed | 1 |
HGVS | NC_000005.9:g.148418038_148418039insA |
CLNSRC | |
CLNACC | RCV000235051.1, |