rs140234726
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs140234726(A;A) |
Make rs140234726(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11999028 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs140234726 |
dbSNP (classic) | rs140234726 |
ClinGen | rs140234726 |
ebi | rs140234726 |
HLI | rs140234726 |
Exac | rs140234726 |
Gnomad | rs140234726 |
Varsome | rs140234726 |
LitVar | rs140234726 |
Map | rs140234726 |
PheGenI | rs140234726 |
Biobank | rs140234726 |
1000 genomes | rs140234726 |
hgdp | rs140234726 |
ensembl | rs140234726 |
geneview | rs140234726 |
scholar | rs140234726 |
rs140234726 | |
pharmgkb | rs140234726 |
gwascentral | rs140234726 |
openSNP | rs140234726 |
23andMe | rs140234726 |
SNPshot | rs140234726 |
SNPdbe | rs140234726 |
MSV3d | rs140234726 |
GWAS Ctlg | rs140234726 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140234726(A;A) |
Alt | rs140234726(A;A) |
Reference | Rs140234726(G;G) |
Significance | Pathogenic |
Disease | not specified Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | not specified Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12059085G>A |
CLNSRC | |
CLNACC | RCV000200438.3, RCV000464315.1, |