rs137853136
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853136(G;T) |
Make rs137853136(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 197442284 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853136 |
dbSNP (classic) | rs137853136 |
ClinGen | rs137853136 |
ebi | rs137853136 |
HLI | rs137853136 |
Exac | rs137853136 |
Gnomad | rs137853136 |
Varsome | rs137853136 |
LitVar | rs137853136 |
Map | rs137853136 |
PheGenI | rs137853136 |
Biobank | rs137853136 |
1000 genomes | rs137853136 |
hgdp | rs137853136 |
ensembl | rs137853136 |
geneview | rs137853136 |
scholar | rs137853136 |
rs137853136 | |
pharmgkb | rs137853136 |
gwascentral | rs137853136 |
openSNP | rs137853136 |
23andMe | rs137853136 |
SNPshot | rs137853136 |
SNPdbe | rs137853136 |
MSV3d | rs137853136 |
GWAS Ctlg | rs137853136 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853136(A;A) rs137853136(T;T) |
Alt | rs137853136(A;A) rs137853136(T;T) |
Reference | Rs137853136(G;G) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 8 |
Variation | info |
Gene | CRB1 |
CLNDBN | Leber congenital amaurosis 8 |
Reversed | 0 |
HGVS | NC_000001.10:g.197411414G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006089.4, |