rs104894706
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894706(C;T) |
Make rs104894706(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 40397766 |
Gene | PRX |
is a | snp |
is | mentioned by |
dbSNP | rs104894706 |
dbSNP (classic) | rs104894706 |
ClinGen | rs104894706 |
ebi | rs104894706 |
HLI | rs104894706 |
Exac | rs104894706 |
Gnomad | rs104894706 |
Varsome | rs104894706 |
LitVar | rs104894706 |
Map | rs104894706 |
PheGenI | rs104894706 |
Biobank | rs104894706 |
1000 genomes | rs104894706 |
hgdp | rs104894706 |
ensembl | rs104894706 |
geneview | rs104894706 |
scholar | rs104894706 |
rs104894706 | |
pharmgkb | rs104894706 |
gwascentral | rs104894706 |
openSNP | rs104894706 |
23andMe | rs104894706 |
SNPshot | rs104894706 |
SNPdbe | rs104894706 |
MSV3d | rs104894706 |
GWAS Ctlg | rs104894706 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894706(A;A) rs104894706(T;T) |
Alt | rs104894706(A;A) rs104894706(T;T) |
Reference | Rs104894706(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Dejerine-Sottas disease |
Variation | info |
Gene | PRX |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 4f Dejerine-Sottas disease |
Reversed | 1 |
HGVS | NC_000019.9:g.40903673G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005057.2, RCV000005058.2, |