rs587780564
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587780564(C;T) |
Make rs587780564(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 101986017 |
Gene | DYNC1H1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780564 |
dbSNP (classic) | rs587780564 |
ClinGen | rs587780564 |
ebi | rs587780564 |
HLI | rs587780564 |
Exac | rs587780564 |
Gnomad | rs587780564 |
Varsome | rs587780564 |
LitVar | rs587780564 |
Map | rs587780564 |
PheGenI | rs587780564 |
Biobank | rs587780564 |
1000 genomes | rs587780564 |
hgdp | rs587780564 |
ensembl | rs587780564 |
geneview | rs587780564 |
scholar | rs587780564 |
rs587780564 | |
pharmgkb | rs587780564 |
gwascentral | rs587780564 |
openSNP | rs587780564 |
23andMe | rs587780564 |
SNPshot | rs587780564 |
SNPdbe | rs587780564 |
MSV3d | rs587780564 |
GWAS Ctlg | rs587780564 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780564(T;T) |
Alt | rs587780564(T;T) |
Reference | Rs587780564(C;C) |
Significance | Pathogenic |
Disease | Spinal muscular atrophy Hereditary motor and sensory neuropathy not provided |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Hereditary motor and sensory neuropathy not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.102452354C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000144249.1, RCV000149555.1, RCV000255067.1, |