rs121918356
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918356(C;T) |
Make rs121918356(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 74611614 |
Gene | LOC101928352, LTBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918356 |
dbSNP (classic) | rs121918356 |
ClinGen | rs121918356 |
ebi | rs121918356 |
HLI | rs121918356 |
Exac | rs121918356 |
Gnomad | rs121918356 |
Varsome | rs121918356 |
LitVar | rs121918356 |
Map | rs121918356 |
PheGenI | rs121918356 |
Biobank | rs121918356 |
1000 genomes | rs121918356 |
hgdp | rs121918356 |
ensembl | rs121918356 |
geneview | rs121918356 |
scholar | rs121918356 |
rs121918356 | |
pharmgkb | rs121918356 |
gwascentral | rs121918356 |
openSNP | rs121918356 |
23andMe | rs121918356 |
SNPshot | rs121918356 |
SNPdbe | rs121918356 |
MSV3d | rs121918356 |
GWAS Ctlg | rs121918356 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918356(T;T) |
Alt | rs121918356(T;T) |
Reference | Rs121918356(C;C) |
Significance | Pathogenic |
Disease | Glaucoma 3 |
Variation | info |
Gene | LTBP2 LOC101928352 |
CLNDBN | Glaucoma 3, primary congenital, d |
Reversed | 1 |
HGVS | NC_000014.8:g.75078317G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007993.2, |