rs765462548
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765462548(C;T) |
Make rs765462548(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 103898989 |
Gene | OBFC1, STN1 |
is a | snp |
is | mentioned by |
dbSNP | rs765462548 |
dbSNP (classic) | rs765462548 |
ClinGen | rs765462548 |
ebi | rs765462548 |
HLI | rs765462548 |
Exac | rs765462548 |
Gnomad | rs765462548 |
Varsome | rs765462548 |
LitVar | rs765462548 |
Map | rs765462548 |
PheGenI | rs765462548 |
Biobank | rs765462548 |
1000 genomes | rs765462548 |
hgdp | rs765462548 |
ensembl | rs765462548 |
geneview | rs765462548 |
scholar | rs765462548 |
rs765462548 | |
pharmgkb | rs765462548 |
gwascentral | rs765462548 |
openSNP | rs765462548 |
23andMe | rs765462548 |
SNPshot | rs765462548 |
SNPdbe | rs765462548 |
MSV3d | rs765462548 |
GWAS Ctlg | rs765462548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765462548(A;A) rs765462548(T;T) |
Alt | rs765462548(A;A) rs765462548(T;T) |
Reference | Rs765462548(C;C) |
Significance | Pathogenic |
Disease | Cerebroretinal microangiopathy with calcifications and cysts 2 |
Variation | info |
Gene | OBFC1 |
CLNDBN | Cerebroretinal microangiopathy with calcifications and cysts 2 |
Reversed | 0 |
HGVS | NC_000010.10:g.105658747C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000417070.1, |