rs864309709
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs864309709(A;G) |
Make rs864309709(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 149063022 |
Gene | LOC255187, MIR584, SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309709 |
dbSNP (classic) | rs864309709 |
ClinGen | rs864309709 |
ebi | rs864309709 |
HLI | rs864309709 |
Exac | rs864309709 |
Gnomad | rs864309709 |
Varsome | rs864309709 |
LitVar | rs864309709 |
Map | rs864309709 |
PheGenI | rs864309709 |
Biobank | rs864309709 |
1000 genomes | rs864309709 |
hgdp | rs864309709 |
ensembl | rs864309709 |
geneview | rs864309709 |
scholar | rs864309709 |
rs864309709 | |
pharmgkb | rs864309709 |
gwascentral | rs864309709 |
openSNP | rs864309709 |
23andMe | rs864309709 |
SNPshot | rs864309709 |
SNPdbe | rs864309709 |
MSV3d | rs864309709 |
GWAS Ctlg | rs864309709 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309709(C;C) rs864309709(G;G) |
Alt | rs864309709(C;C) rs864309709(G;G) |
Reference | Rs864309709(A;A) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SH3TC2 MIR584 LOC255187 |
CLNDBN | Charcot-Marie-Tooth disease, type 4C |
Reversed | 1 |
HGVS | NC_000005.9:g.148442585T>C |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000203275.1, |