rs121918428
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918428(A;A) |
Make rs121918428(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 49061381 |
Gene | NTF4 |
is a | snp |
is | mentioned by |
dbSNP | rs121918428 |
dbSNP (classic) | rs121918428 |
ClinGen | rs121918428 |
ebi | rs121918428 |
HLI | rs121918428 |
Exac | rs121918428 |
Gnomad | rs121918428 |
Varsome | rs121918428 |
LitVar | rs121918428 |
Map | rs121918428 |
PheGenI | rs121918428 |
Biobank | rs121918428 |
1000 genomes | rs121918428 |
hgdp | rs121918428 |
ensembl | rs121918428 |
geneview | rs121918428 |
scholar | rs121918428 |
rs121918428 | |
pharmgkb | rs121918428 |
gwascentral | rs121918428 |
openSNP | rs121918428 |
23andMe | rs121918428 |
SNPshot | rs121918428 |
SNPdbe | rs121918428 |
MSV3d | rs121918428 |
GWAS Ctlg | rs121918428 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918428(A;A) |
Alt | rs121918428(A;A) |
Reference | Rs121918428(G;G) |
Significance | Pathogenic |
Disease | Glaucoma 1 |
Variation | info |
Gene | NTF4 |
CLNDBN | Glaucoma 1, open angle, O |
Reversed | 1 |
HGVS | NC_000019.9:g.49564638C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015062.25, |