rs773159585
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773159585(C;T) |
Make rs773159585(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11998877 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs773159585 |
dbSNP (classic) | rs773159585 |
ClinGen | rs773159585 |
ebi | rs773159585 |
HLI | rs773159585 |
Exac | rs773159585 |
Gnomad | rs773159585 |
Varsome | rs773159585 |
LitVar | rs773159585 |
Map | rs773159585 |
PheGenI | rs773159585 |
Biobank | rs773159585 |
1000 genomes | rs773159585 |
hgdp | rs773159585 |
ensembl | rs773159585 |
geneview | rs773159585 |
scholar | rs773159585 |
rs773159585 | |
pharmgkb | rs773159585 |
gwascentral | rs773159585 |
openSNP | rs773159585 |
23andMe | rs773159585 |
SNPshot | rs773159585 |
SNPdbe | rs773159585 |
MSV3d | rs773159585 |
GWAS Ctlg | rs773159585 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773159585(T;T) |
Alt | rs773159585(T;T) |
Reference | Rs773159585(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Distal lower limb amyotrophy Distal muscle weakness Peripheral axonal neuropathy Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2A2 Distal lower limb amyotrophy Distal muscle weakness Peripheral axonal neuropathy Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12058934C>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201150.1, RCV000414991.1, RCV000470638.1, |