rs770546306
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs770546306(G;T) |
Make rs770546306(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 161307402 |
Gene | MPZ |
is a | snp |
is | mentioned by |
dbSNP | rs770546306 |
dbSNP (classic) | rs770546306 |
ClinGen | rs770546306 |
ebi | rs770546306 |
HLI | rs770546306 |
Exac | rs770546306 |
Gnomad | rs770546306 |
Varsome | rs770546306 |
LitVar | rs770546306 |
Map | rs770546306 |
PheGenI | rs770546306 |
Biobank | rs770546306 |
1000 genomes | rs770546306 |
hgdp | rs770546306 |
ensembl | rs770546306 |
geneview | rs770546306 |
scholar | rs770546306 |
rs770546306 | |
pharmgkb | rs770546306 |
gwascentral | rs770546306 |
openSNP | rs770546306 |
23andMe | rs770546306 |
SNPshot | rs770546306 |
SNPdbe | rs770546306 |
MSV3d | rs770546306 |
GWAS Ctlg | rs770546306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770546306(A;A) rs770546306(C;C) rs770546306(T;T) |
Alt | rs770546306(A;A) rs770546306(C;C) rs770546306(T;T) |
Reference | Rs770546306(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
Variation | info |
Gene | MPZ |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I |
Reversed | 0 |
HGVS | NC_000001.10:g.161277192G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000201151.1, RCV000464045.1, |