rs80338928
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338928(-;-) |
Make rs80338928(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 149027541 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs80338928 |
dbSNP (classic) | rs80338928 |
ClinGen | rs80338928 |
ebi | rs80338928 |
HLI | rs80338928 |
Exac | rs80338928 |
Gnomad | rs80338928 |
Varsome | rs80338928 |
LitVar | rs80338928 |
Map | rs80338928 |
PheGenI | rs80338928 |
Biobank | rs80338928 |
1000 genomes | rs80338928 |
hgdp | rs80338928 |
ensembl | rs80338928 |
geneview | rs80338928 |
scholar | rs80338928 |
rs80338928 | |
pharmgkb | rs80338928 |
gwascentral | rs80338928 |
openSNP | rs80338928 |
23andMe | rs80338928 |
SNPshot | rs80338928 |
SNPdbe | rs80338928 |
MSV3d | rs80338928 |
GWAS Ctlg | rs80338928 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338928(-;-) |
Alt | rs80338928(-;-) |
Reference | Rs80338928(G;G) |
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.148407104delC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020891.1, |