rs587781253
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587781253(A;A) |
Make rs587781253(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 101985925 |
Gene | DYNC1H1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781253 |
dbSNP (classic) | rs587781253 |
ClinGen | rs587781253 |
ebi | rs587781253 |
HLI | rs587781253 |
Exac | rs587781253 |
Gnomad | rs587781253 |
Varsome | rs587781253 |
LitVar | rs587781253 |
Map | rs587781253 |
PheGenI | rs587781253 |
Biobank | rs587781253 |
1000 genomes | rs587781253 |
hgdp | rs587781253 |
ensembl | rs587781253 |
geneview | rs587781253 |
scholar | rs587781253 |
rs587781253 | |
pharmgkb | rs587781253 |
gwascentral | rs587781253 |
openSNP | rs587781253 |
23andMe | rs587781253 |
SNPshot | rs587781253 |
SNPdbe | rs587781253 |
MSV3d | rs587781253 |
GWAS Ctlg | rs587781253 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781253(A;A) |
Alt | rs587781253(A;A) |
Reference | Rs587781253(G;G) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | Charcot-Marie-Tooth disease |
Reversed | 0 |
HGVS | NC_000014.8:g.102452262G>A |
CLNSRC | |
CLNACC | RCV000144880.1, |