rs794729198
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794729198(C;T) |
Make rs794729198(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11999025 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs794729198 |
dbSNP (classic) | rs794729198 |
ClinGen | rs794729198 |
ebi | rs794729198 |
HLI | rs794729198 |
Exac | rs794729198 |
Gnomad | rs794729198 |
Varsome | rs794729198 |
LitVar | rs794729198 |
Map | rs794729198 |
PheGenI | rs794729198 |
Biobank | rs794729198 |
1000 genomes | rs794729198 |
hgdp | rs794729198 |
ensembl | rs794729198 |
geneview | rs794729198 |
scholar | rs794729198 |
rs794729198 | |
pharmgkb | rs794729198 |
gwascentral | rs794729198 |
openSNP | rs794729198 |
23andMe | rs794729198 |
SNPshot | rs794729198 |
SNPdbe | rs794729198 |
MSV3d | rs794729198 |
GWAS Ctlg | rs794729198 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729198(T;T) |
Alt | rs794729198(T;T) |
Reference | Rs794729198(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2A2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12059082C>T |
CLNSRC | |
CLNACC | RCV000184017.1, |