rs786204081
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786204081(A;T) |
Make rs786204081(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 86251959 |
Gene | REEP1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204081 |
dbSNP (classic) | rs786204081 |
ClinGen | rs786204081 |
ebi | rs786204081 |
HLI | rs786204081 |
Exac | rs786204081 |
Gnomad | rs786204081 |
Varsome | rs786204081 |
LitVar | rs786204081 |
Map | rs786204081 |
PheGenI | rs786204081 |
Biobank | rs786204081 |
1000 genomes | rs786204081 |
hgdp | rs786204081 |
ensembl | rs786204081 |
geneview | rs786204081 |
scholar | rs786204081 |
rs786204081 | |
pharmgkb | rs786204081 |
gwascentral | rs786204081 |
openSNP | rs786204081 |
23andMe | rs786204081 |
SNPshot | rs786204081 |
SNPdbe | rs786204081 |
MSV3d | rs786204081 |
GWAS Ctlg | rs786204081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204081(T;T) |
Alt | rs786204081(T;T) |
Reference | Rs786204081(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 31 |
Variation | info |
Gene | REEP1 |
CLNDBN | Spastic paraplegia 31, autosomal dominant |
Reversed | 1 |
HGVS | NC_000002.11:g.86479082T>A |
CLNSRC | |
CLNACC | RCV000167976.1, |