rs373905859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373905859(A;A) |
Make rs373905859(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 8231427 |
Gene | CTC1 |
is a | snp |
is | mentioned by |
dbSNP | rs373905859 |
dbSNP (classic) | rs373905859 |
ClinGen | rs373905859 |
ebi | rs373905859 |
HLI | rs373905859 |
Exac | rs373905859 |
Gnomad | rs373905859 |
Varsome | rs373905859 |
LitVar | rs373905859 |
Map | rs373905859 |
PheGenI | rs373905859 |
Biobank | rs373905859 |
1000 genomes | rs373905859 |
hgdp | rs373905859 |
ensembl | rs373905859 |
geneview | rs373905859 |
scholar | rs373905859 |
rs373905859 | |
pharmgkb | rs373905859 |
gwascentral | rs373905859 |
openSNP | rs373905859 |
23andMe | rs373905859 |
SNPshot | rs373905859 |
SNPdbe | rs373905859 |
MSV3d | rs373905859 |
GWAS Ctlg | rs373905859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373905859(A;A) |
Alt | rs373905859(A;A) |
Reference | Rs373905859(G;G) |
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.8134745G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023990.4, |