rs370115218
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370115218(G;T) |
Make rs370115218(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 149012634 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs370115218 |
dbSNP (classic) | rs370115218 |
ClinGen | rs370115218 |
ebi | rs370115218 |
HLI | rs370115218 |
Exac | rs370115218 |
Gnomad | rs370115218 |
Varsome | rs370115218 |
LitVar | rs370115218 |
Map | rs370115218 |
PheGenI | rs370115218 |
Biobank | rs370115218 |
1000 genomes | rs370115218 |
hgdp | rs370115218 |
ensembl | rs370115218 |
geneview | rs370115218 |
scholar | rs370115218 |
rs370115218 | |
pharmgkb | rs370115218 |
gwascentral | rs370115218 |
openSNP | rs370115218 |
23andMe | rs370115218 |
SNPshot | rs370115218 |
SNPdbe | rs370115218 |
MSV3d | rs370115218 |
GWAS Ctlg | rs370115218 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370115218(A;A) rs370115218(T;T) |
Alt | rs370115218(A;A) rs370115218(T;T) |
Reference | Rs370115218(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SH3TC2 |
CLNDBN | Charcot-Marie-Tooth disease, type IV |
Reversed | 0 |
HGVS | NC_000005.9:g.148392197G>A |
CLNSRC | |
CLNACC | RCV000204837.1, |