rs587780441
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587780441(A;G) |
Make rs587780441(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 42856296 |
Gene | RNF170 |
is a | snp |
is | mentioned by |
dbSNP | rs587780441 |
dbSNP (classic) | rs587780441 |
ClinGen | rs587780441 |
ebi | rs587780441 |
HLI | rs587780441 |
Exac | rs587780441 |
Gnomad | rs587780441 |
Varsome | rs587780441 |
LitVar | rs587780441 |
Map | rs587780441 |
PheGenI | rs587780441 |
Biobank | rs587780441 |
1000 genomes | rs587780441 |
hgdp | rs587780441 |
ensembl | rs587780441 |
geneview | rs587780441 |
scholar | rs587780441 |
rs587780441 | |
pharmgkb | rs587780441 |
gwascentral | rs587780441 |
openSNP | rs587780441 |
23andMe | rs587780441 |
SNPshot | rs587780441 |
SNPdbe | rs587780441 |
MSV3d | rs587780441 |
GWAS Ctlg | rs587780441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780441(G;G) |
Alt | rs587780441(G;G) |
Reference | Rs587780441(A;A) |
Significance | Probable-Pathogenic |
Disease | Ataxia |
Variation | info |
Gene | RNF170 |
CLNDBN | Ataxia, sensory, autosomal dominant |
Reversed | 1 |
HGVS | NC_000008.10:g.42711439T>C |
CLNSRC | |
CLNACC | RCV000118187.1, |