rs1057519583
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519583(C;C) |
Make rs1057519583(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 103900115 |
Gene | OBFC1, STN1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519583 |
dbSNP (classic) | rs1057519583 |
ClinGen | rs1057519583 |
ebi | rs1057519583 |
HLI | rs1057519583 |
Exac | rs1057519583 |
Gnomad | rs1057519583 |
Varsome | rs1057519583 |
LitVar | rs1057519583 |
Map | rs1057519583 |
PheGenI | rs1057519583 |
Biobank | rs1057519583 |
1000 genomes | rs1057519583 |
hgdp | rs1057519583 |
ensembl | rs1057519583 |
geneview | rs1057519583 |
scholar | rs1057519583 |
rs1057519583 | |
pharmgkb | rs1057519583 |
gwascentral | rs1057519583 |
openSNP | rs1057519583 |
23andMe | rs1057519583 |
SNPshot | rs1057519583 |
SNPdbe | rs1057519583 |
MSV3d | rs1057519583 |
GWAS Ctlg | rs1057519583 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519583(C;C) |
Alt | rs1057519583(C;C) |
Reference | Rs1057519583(G;G) |
Significance | Pathogenic |
Disease | Cerebroretinal microangiopathy with calcifications and cysts 2 |
Variation | info |
Gene | STN1 |
CLNDBN | Cerebroretinal microangiopathy with calcifications and cysts 2 |
Reversed | 1 |
HGVS | NC_000010.10:g.105659873C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000417067.1, |