rs770649540
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs770649540(C;G) |
Make rs770649540(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 12118846 |
Gene | DHTKD1 |
is a | snp |
is | mentioned by |
dbSNP | rs770649540 |
dbSNP (classic) | rs770649540 |
ClinGen | rs770649540 |
ebi | rs770649540 |
HLI | rs770649540 |
Exac | rs770649540 |
Gnomad | rs770649540 |
Varsome | rs770649540 |
LitVar | rs770649540 |
Map | rs770649540 |
PheGenI | rs770649540 |
Biobank | rs770649540 |
1000 genomes | rs770649540 |
hgdp | rs770649540 |
ensembl | rs770649540 |
geneview | rs770649540 |
scholar | rs770649540 |
rs770649540 | |
pharmgkb | rs770649540 |
gwascentral | rs770649540 |
openSNP | rs770649540 |
23andMe | rs770649540 |
SNPshot | rs770649540 |
SNPdbe | rs770649540 |
MSV3d | rs770649540 |
GWAS Ctlg | rs770649540 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770649540(G;G) rs770649540(T;T) |
Alt | rs770649540(G;G) rs770649540(T;T) |
Reference | Rs770649540(C;C) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | DHTKD1 |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2Q |
Reversed | 0 |
HGVS | NC_000010.10:g.12160845C>T |
CLNSRC | |
CLNACC | RCV000198805.1, |