rs80338921
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338921(A;A) |
Make rs80338921(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 149038376 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs80338921 |
dbSNP (classic) | rs80338921 |
ClinGen | rs80338921 |
ebi | rs80338921 |
HLI | rs80338921 |
Exac | rs80338921 |
Gnomad | rs80338921 |
Varsome | rs80338921 |
LitVar | rs80338921 |
Map | rs80338921 |
PheGenI | rs80338921 |
Biobank | rs80338921 |
1000 genomes | rs80338921 |
hgdp | rs80338921 |
ensembl | rs80338921 |
geneview | rs80338921 |
scholar | rs80338921 |
rs80338921 | |
pharmgkb | rs80338921 |
gwascentral | rs80338921 |
openSNP | rs80338921 |
23andMe | rs80338921 |
SNPshot | rs80338921 |
SNPdbe | rs80338921 |
MSV3d | rs80338921 |
GWAS Ctlg | rs80338921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338921(A;A) |
Alt | rs80338921(A;A) |
Reference | Rs80338921(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.148417939C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020899.1, |