rs145770066
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs145770066(C;T) |
Make rs145770066(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 49830790 |
Gene | MED25, MIR6800 |
is a | snp |
is | mentioned by |
dbSNP | rs145770066 |
dbSNP (classic) | rs145770066 |
ClinGen | rs145770066 |
ebi | rs145770066 |
HLI | rs145770066 |
Exac | rs145770066 |
Gnomad | rs145770066 |
Varsome | rs145770066 |
LitVar | rs145770066 |
Map | rs145770066 |
PheGenI | rs145770066 |
Biobank | rs145770066 |
1000 genomes | rs145770066 |
hgdp | rs145770066 |
ensembl | rs145770066 |
geneview | rs145770066 |
scholar | rs145770066 |
rs145770066 | |
pharmgkb | rs145770066 |
gwascentral | rs145770066 |
openSNP | rs145770066 |
23andMe | rs145770066 |
SNPshot | rs145770066 |
SNPdbe | rs145770066 |
MSV3d | rs145770066 |
GWAS Ctlg | rs145770066 |
GMAF | 0.002296 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145770066(T;T) |
Alt | rs145770066(T;T) |
Reference | Rs145770066(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2B2 not specified Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | MED25 MIR6800 |
CLNDBN | Charcot-Marie-Tooth disease type 2B2 not specified Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 2 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.50334047C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001387.6, RCV000180690.2, RCV000192241.1, RCV000203675.2, RCV000416086.1, |