rs201455840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201455840(A;G) |
Make rs201455840(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 8228592 |
Gene | CTC1 |
is a | snp |
is | mentioned by |
dbSNP | rs201455840 |
dbSNP (classic) | rs201455840 |
ClinGen | rs201455840 |
ebi | rs201455840 |
HLI | rs201455840 |
Exac | rs201455840 |
Gnomad | rs201455840 |
Varsome | rs201455840 |
LitVar | rs201455840 |
Map | rs201455840 |
PheGenI | rs201455840 |
Biobank | rs201455840 |
1000 genomes | rs201455840 |
hgdp | rs201455840 |
ensembl | rs201455840 |
geneview | rs201455840 |
scholar | rs201455840 |
rs201455840 | |
pharmgkb | rs201455840 |
gwascentral | rs201455840 |
openSNP | rs201455840 |
23andMe | rs201455840 |
SNPshot | rs201455840 |
SNPdbe | rs201455840 |
MSV3d | rs201455840 |
GWAS Ctlg | rs201455840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201455840(G;G) rs201455840(T;T) |
Alt | rs201455840(G;G) rs201455840(T;T) |
Reference | Rs201455840(A;A) |
Significance | Pathogenic |
Disease | Cerebroretinal microangiopathy with calcifications and cysts 1 |
Variation | info |
Gene | CTC1 |
CLNDBN | Cerebroretinal microangiopathy with calcifications and cysts 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.8131910A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023992.5, |