rs763492075
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763492075(C;C) |
Make rs763492075(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 12007126 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs763492075 |
dbSNP (classic) | rs763492075 |
ClinGen | rs763492075 |
ebi | rs763492075 |
HLI | rs763492075 |
Exac | rs763492075 |
Gnomad | rs763492075 |
Varsome | rs763492075 |
LitVar | rs763492075 |
Map | rs763492075 |
PheGenI | rs763492075 |
Biobank | rs763492075 |
1000 genomes | rs763492075 |
hgdp | rs763492075 |
ensembl | rs763492075 |
geneview | rs763492075 |
scholar | rs763492075 |
rs763492075 | |
pharmgkb | rs763492075 |
gwascentral | rs763492075 |
openSNP | rs763492075 |
23andMe | rs763492075 |
SNPshot | rs763492075 |
SNPdbe | rs763492075 |
MSV3d | rs763492075 |
GWAS Ctlg | rs763492075 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763492075(A;A) rs763492075(C;C) rs763492075(T;T) |
Alt | rs763492075(A;A) rs763492075(C;C) rs763492075(T;T) |
Reference | Rs763492075(G;G) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2 Charcot-Marie-Tooth disease, type 2A2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12067183G>A; NC_000001.10:g.12067183G>C |
CLNSRC | |
CLNACC | RCV000233537.1, RCV000235085.1, |