rs281865122
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
(T;T) | 0 | common in clinvar |
Make rs281865122(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 161307317 |
Gene | MPZ |
is a | snp |
is | mentioned by |
dbSNP | rs281865122 |
dbSNP (classic) | rs281865122 |
ClinGen | rs281865122 |
ebi | rs281865122 |
HLI | rs281865122 |
Exac | rs281865122 |
Gnomad | rs281865122 |
Varsome | rs281865122 |
LitVar | rs281865122 |
Map | rs281865122 |
PheGenI | rs281865122 |
Biobank | rs281865122 |
1000 genomes | rs281865122 |
hgdp | rs281865122 |
ensembl | rs281865122 |
geneview | rs281865122 |
scholar | rs281865122 |
rs281865122 | |
pharmgkb | rs281865122 |
gwascentral | rs281865122 |
openSNP | rs281865122 |
23andMe | rs281865122 |
SNPshot | rs281865122 |
SNPdbe | rs281865122 |
MSV3d | rs281865122 |
GWAS Ctlg | rs281865122 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs281865122(A;A) |
Alt | rs281865122(A;A) |
Reference | Rs281865122(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MPZ |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 1b |
Reversed | 1 |
HGVS | NC_000001.10:g.161277107A>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033912.1, |