rs199624584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199624584(C;G) |
Make rs199624584(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 56231415 |
Gene | SLC39A5 |
is a | snp |
is | mentioned by |
dbSNP | rs199624584 |
dbSNP (classic) | rs199624584 |
ClinGen | rs199624584 |
ebi | rs199624584 |
HLI | rs199624584 |
Exac | rs199624584 |
Gnomad | rs199624584 |
Varsome | rs199624584 |
LitVar | rs199624584 |
Map | rs199624584 |
PheGenI | rs199624584 |
Biobank | rs199624584 |
1000 genomes | rs199624584 |
hgdp | rs199624584 |
ensembl | rs199624584 |
geneview | rs199624584 |
scholar | rs199624584 |
rs199624584 | |
pharmgkb | rs199624584 |
gwascentral | rs199624584 |
openSNP | rs199624584 |
23andMe | rs199624584 |
SNPshot | rs199624584 |
SNPdbe | rs199624584 |
MSV3d | rs199624584 |
GWAS Ctlg | rs199624584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199624584(A;A) rs199624584(G;G) rs199624584(T;T) |
Alt | rs199624584(A;A) rs199624584(G;G) rs199624584(T;T) |
Reference | Rs199624584(C;C) |
Significance | Pathogenic |
Disease | Myopia 24 |
Variation | info |
Gene | SLC39A5 |
CLNDBN | Myopia 24, autosomal dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.56625199C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000133506.2, |