rs137853300
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853300(C;G) |
Make rs137853300(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 32859277 |
Gene | SYN3, TIMP3 |
is a | snp |
is | mentioned by |
dbSNP | rs137853300 |
dbSNP (classic) | rs137853300 |
ClinGen | rs137853300 |
ebi | rs137853300 |
HLI | rs137853300 |
Exac | rs137853300 |
Gnomad | rs137853300 |
Varsome | rs137853300 |
LitVar | rs137853300 |
Map | rs137853300 |
PheGenI | rs137853300 |
Biobank | rs137853300 |
1000 genomes | rs137853300 |
hgdp | rs137853300 |
ensembl | rs137853300 |
geneview | rs137853300 |
scholar | rs137853300 |
rs137853300 | |
pharmgkb | rs137853300 |
gwascentral | rs137853300 |
openSNP | rs137853300 |
23andMe | rs137853300 |
SNPshot | rs137853300 |
SNPdbe | rs137853300 |
MSV3d | rs137853300 |
GWAS Ctlg | rs137853300 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853300(G;G) |
Alt | rs137853300(G;G) |
Reference | Rs137853300(C;C) |
Significance | Pathogenic |
Disease | Sorsby fundus dystrophy |
Variation | info |
Gene | SYN3 TIMP3 |
CLNDBN | Sorsby fundus dystrophy |
Reversed | 0 |
HGVS | NC_000022.10:g.33255264C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013515.24, |