rs121918427
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918427(C;T) |
Make rs121918427(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 49061382 |
Gene | NTF4 |
is a | snp |
is | mentioned by |
dbSNP | rs121918427 |
dbSNP (classic) | rs121918427 |
ClinGen | rs121918427 |
ebi | rs121918427 |
HLI | rs121918427 |
Exac | rs121918427 |
Gnomad | rs121918427 |
Varsome | rs121918427 |
LitVar | rs121918427 |
Map | rs121918427 |
PheGenI | rs121918427 |
Biobank | rs121918427 |
1000 genomes | rs121918427 |
hgdp | rs121918427 |
ensembl | rs121918427 |
geneview | rs121918427 |
scholar | rs121918427 |
rs121918427 | |
pharmgkb | rs121918427 |
gwascentral | rs121918427 |
openSNP | rs121918427 |
23andMe | rs121918427 |
SNPshot | rs121918427 |
SNPdbe | rs121918427 |
MSV3d | rs121918427 |
GWAS Ctlg | rs121918427 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918427(T;T) |
Alt | rs121918427(T;T) |
Reference | Rs121918427(C;C) |
Significance | Pathogenic |
Disease | Glaucoma 1 |
Variation | info |
Gene | NTF4 |
CLNDBN | Glaucoma 1, open angle, O |
Reversed | 1 |
HGVS | NC_000019.9:g.49564639G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015061.21, |