rs281865128
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
(G;G) | 0 | common in clinvar |
Make rs281865128(C;C) |
Make rs281865128(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 161306426 |
Gene | MPZ |
is a | snp |
is | mentioned by |
dbSNP | rs281865128 |
dbSNP (classic) | rs281865128 |
ClinGen | rs281865128 |
ebi | rs281865128 |
HLI | rs281865128 |
Exac | rs281865128 |
Gnomad | rs281865128 |
Varsome | rs281865128 |
LitVar | rs281865128 |
Map | rs281865128 |
PheGenI | rs281865128 |
Biobank | rs281865128 |
1000 genomes | rs281865128 |
hgdp | rs281865128 |
ensembl | rs281865128 |
geneview | rs281865128 |
scholar | rs281865128 |
rs281865128 | |
pharmgkb | rs281865128 |
gwascentral | rs281865128 |
openSNP | rs281865128 |
23andMe | rs281865128 |
SNPshot | rs281865128 |
SNPdbe | rs281865128 |
MSV3d | rs281865128 |
GWAS Ctlg | rs281865128 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs281865128(A;A) rs281865128(C;C) |
Alt | rs281865128(A;A) rs281865128(C;C) |
Reference | Rs281865128(G;G) |
Significance | Other |
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 | 1 |
HGVS | NC_000001.10:g.161276216C>G; NC_000001.10:g.161276216C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000033919.3, RCV000205003.3, RCV000217802.1, RCV000193606.1, |