rs730882158
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730882158(A;A) |
Make rs730882158(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 232523524 |
Gene | PRSS56 |
is a | snp |
is | mentioned by |
dbSNP | rs730882158 |
dbSNP (classic) | rs730882158 |
ClinGen | rs730882158 |
ebi | rs730882158 |
HLI | rs730882158 |
Exac | rs730882158 |
Gnomad | rs730882158 |
Varsome | rs730882158 |
LitVar | rs730882158 |
Map | rs730882158 |
PheGenI | rs730882158 |
Biobank | rs730882158 |
1000 genomes | rs730882158 |
hgdp | rs730882158 |
ensembl | rs730882158 |
geneview | rs730882158 |
scholar | rs730882158 |
rs730882158 | |
pharmgkb | rs730882158 |
gwascentral | rs730882158 |
openSNP | rs730882158 |
23andMe | rs730882158 |
SNPshot | rs730882158 |
SNPdbe | rs730882158 |
MSV3d | rs730882158 |
GWAS Ctlg | rs730882158 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882158(A;A) |
Alt | rs730882158(A;A) |
Reference | Rs730882158(G;G) |
Significance | Pathogenic |
Disease | Microphthalmia |
Variation | info |
Gene | PRSS56 |
CLNDBN | Microphthalmia, isolated 6 |
Reversed | 0 |
HGVS | NC_000002.11:g.233388234G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000162038.3, |