rs121909094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121909094(A;A) |
Make rs121909094(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 10820017 |
Gene | DNM2 |
is a | snp |
is | mentioned by |
dbSNP | rs121909094 |
dbSNP (classic) | rs121909094 |
ClinGen | rs121909094 |
ebi | rs121909094 |
HLI | rs121909094 |
Exac | rs121909094 |
Gnomad | rs121909094 |
Varsome | rs121909094 |
LitVar | rs121909094 |
Map | rs121909094 |
PheGenI | rs121909094 |
Biobank | rs121909094 |
1000 genomes | rs121909094 |
hgdp | rs121909094 |
ensembl | rs121909094 |
geneview | rs121909094 |
scholar | rs121909094 |
rs121909094 | |
pharmgkb | rs121909094 |
gwascentral | rs121909094 |
openSNP | rs121909094 |
23andMe | rs121909094 |
SNPshot | rs121909094 |
SNPdbe | rs121909094 |
MSV3d | rs121909094 |
GWAS Ctlg | rs121909094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909094(A;A) |
Alt | rs121909094(A;A) |
Reference | Rs121909094(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | DNM2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2M |
Reversed | 0 |
HGVS | NC_000019.9:g.10930693T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007707.3, |