rs200857997
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200857997(G;G) |
Make rs200857997(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 184659424 |
Gene | PRIMPOL |
is a | snp |
is | mentioned by |
dbSNP | rs200857997 |
dbSNP (classic) | rs200857997 |
ClinGen | rs200857997 |
ebi | rs200857997 |
HLI | rs200857997 |
Exac | rs200857997 |
Gnomad | rs200857997 |
Varsome | rs200857997 |
LitVar | rs200857997 |
Map | rs200857997 |
PheGenI | rs200857997 |
Biobank | rs200857997 |
1000 genomes | rs200857997 |
hgdp | rs200857997 |
ensembl | rs200857997 |
geneview | rs200857997 |
scholar | rs200857997 |
rs200857997 | |
pharmgkb | rs200857997 |
gwascentral | rs200857997 |
openSNP | rs200857997 |
23andMe | rs200857997 |
SNPshot | rs200857997 |
SNPdbe | rs200857997 |
MSV3d | rs200857997 |
GWAS Ctlg | rs200857997 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200857997(C;C) rs200857997(G;G) |
Alt | rs200857997(C;C) rs200857997(G;G) |
Reference | Rs200857997(T;T) |
Significance | Pathogenic |
Disease | Myopia 22 |
Variation | info |
Gene | PRIMPOL CCDC111 |
CLNDBN | Myopia 22, autosomal dominant |
Reversed | 0 |
HGVS | NC_000004.11:g.185580578T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000055646.2, |