rs776221160
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs776221160(C;T) |
Make rs776221160(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 149047862 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs776221160 |
dbSNP (classic) | rs776221160 |
ClinGen | rs776221160 |
ebi | rs776221160 |
HLI | rs776221160 |
Exac | rs776221160 |
Gnomad | rs776221160 |
Varsome | rs776221160 |
LitVar | rs776221160 |
Map | rs776221160 |
PheGenI | rs776221160 |
Biobank | rs776221160 |
1000 genomes | rs776221160 |
hgdp | rs776221160 |
ensembl | rs776221160 |
geneview | rs776221160 |
scholar | rs776221160 |
rs776221160 | |
pharmgkb | rs776221160 |
gwascentral | rs776221160 |
openSNP | rs776221160 |
23andMe | rs776221160 |
SNPshot | rs776221160 |
SNPdbe | rs776221160 |
MSV3d | rs776221160 |
GWAS Ctlg | rs776221160 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776221160(T;T) |
Alt | rs776221160(T;T) |
Reference | Rs776221160(C;C) |
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.148427425C>T |
CLNSRC | |
CLNACC | RCV000200652.1, |