rs371856018
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
(T;T) | 0 | common in clinvar |
Make rs371856018(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 161307376 |
Gene | MPZ |
is a | snp |
is | mentioned by |
dbSNP | rs371856018 |
dbSNP (classic) | rs371856018 |
ClinGen | rs371856018 |
ebi | rs371856018 |
HLI | rs371856018 |
Exac | rs371856018 |
Gnomad | rs371856018 |
Varsome | rs371856018 |
LitVar | rs371856018 |
Map | rs371856018 |
PheGenI | rs371856018 |
Biobank | rs371856018 |
1000 genomes | rs371856018 |
hgdp | rs371856018 |
ensembl | rs371856018 |
geneview | rs371856018 |
scholar | rs371856018 |
rs371856018 | |
pharmgkb | rs371856018 |
gwascentral | rs371856018 |
openSNP | rs371856018 |
23andMe | rs371856018 |
SNPshot | rs371856018 |
SNPdbe | rs371856018 |
MSV3d | rs371856018 |
GWAS Ctlg | rs371856018 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs371856018(C;C) rs371856018(G;G) |
Alt | rs371856018(C;C) rs371856018(G;G) |
Reference | Rs371856018(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | MPZ |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.161277166T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000201089.1, RCV000206430.2, RCV000236108.1, |