rs146936371
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs146936371(C;C) |
Make rs146936371(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 90939595 |
Gene | ZNF644 |
is a | snp |
is | mentioned by |
dbSNP | rs146936371 |
dbSNP (classic) | rs146936371 |
ClinGen | rs146936371 |
ebi | rs146936371 |
HLI | rs146936371 |
Exac | rs146936371 |
Gnomad | rs146936371 |
Varsome | rs146936371 |
LitVar | rs146936371 |
Map | rs146936371 |
PheGenI | rs146936371 |
Biobank | rs146936371 |
1000 genomes | rs146936371 |
hgdp | rs146936371 |
ensembl | rs146936371 |
geneview | rs146936371 |
scholar | rs146936371 |
rs146936371 | |
pharmgkb | rs146936371 |
gwascentral | rs146936371 |
openSNP | rs146936371 |
23andMe | rs146936371 |
SNPshot | rs146936371 |
SNPdbe | rs146936371 |
MSV3d | rs146936371 |
GWAS Ctlg | rs146936371 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146936371(C;C) |
Alt | rs146936371(C;C) |
Reference | Rs146936371(T;T) |
Significance | Pathogenic |
Disease | Myopia 21 |
Variation | info |
Gene | ZNF644 |
CLNDBN | Myopia 21, autosomal dominant |
Reversed | 0 |
HGVS | NC_000001.10:g.91405152T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024104.2, |