rs1085307087
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 1 |
Position | 40097238 |
Gene | PPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307087 |
dbSNP (classic) | rs1085307087 |
ClinGen | rs1085307087 |
ebi | rs1085307087 |
HLI | rs1085307087 |
Exac | rs1085307087 |
Gnomad | rs1085307087 |
Varsome | rs1085307087 |
LitVar | rs1085307087 |
Map | rs1085307087 |
PheGenI | rs1085307087 |
Biobank | rs1085307087 |
1000 genomes | rs1085307087 |
hgdp | rs1085307087 |
ensembl | rs1085307087 |
geneview | rs1085307087 |
scholar | rs1085307087 |
rs1085307087 | |
pharmgkb | rs1085307087 |
gwascentral | rs1085307087 |
openSNP | rs1085307087 |
23andMe | rs1085307087 |
SNPshot | rs1085307087 |
SNPdbe | rs1085307087 |
MSV3d | rs1085307087 |
GWAS Ctlg | rs1085307087 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307087(G;G) |
Alt | rs1085307087(G;G) |
Reference | Rs1085307087(A;A) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 1 |
Variation | info |
Gene | PPT1 |
CLNDBN | Ceroid lipofuscinosis neuronal 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.40562910T>C |
CLNSRC | |
CLNACC | RCV000490479.1, |