rs541217363
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs541217363(C;T) |
Make rs541217363(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 27180259 |
Gene | TEK |
is a | snp |
is | mentioned by |
dbSNP | rs541217363 |
dbSNP (classic) | rs541217363 |
ClinGen | rs541217363 |
ebi | rs541217363 |
HLI | rs541217363 |
Exac | rs541217363 |
Gnomad | rs541217363 |
Varsome | rs541217363 |
LitVar | rs541217363 |
Map | rs541217363 |
PheGenI | rs541217363 |
Biobank | rs541217363 |
1000 genomes | rs541217363 |
hgdp | rs541217363 |
ensembl | rs541217363 |
geneview | rs541217363 |
scholar | rs541217363 |
rs541217363 | |
pharmgkb | rs541217363 |
gwascentral | rs541217363 |
openSNP | rs541217363 |
23andMe | rs541217363 |
SNPshot | rs541217363 |
SNPdbe | rs541217363 |
MSV3d | rs541217363 |
GWAS Ctlg | rs541217363 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs541217363(A;A) rs541217363(T;T) |
Alt | rs541217363(A;A) rs541217363(T;T) |
Reference | Rs541217363(C;C) |
Significance | Pathogenic |
Disease | Glaucoma 3 |
Variation | info |
Gene | TEK |
CLNDBN | Glaucoma 3, primary congenital, E |
Reversed | 0 |
HGVS | NC_000009.11:g.27180257C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415569.1, |