rs1085307049
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATT;ATT) | 0 | common in clinvar |
Chromosome | 3 |
Position | 150928174 |
Gene | CLRN1 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307049 |
dbSNP (classic) | rs1085307049 |
ClinGen | rs1085307049 |
ebi | rs1085307049 |
HLI | rs1085307049 |
Exac | rs1085307049 |
Gnomad | rs1085307049 |
Varsome | rs1085307049 |
LitVar | rs1085307049 |
Map | rs1085307049 |
PheGenI | rs1085307049 |
Biobank | rs1085307049 |
1000 genomes | rs1085307049 |
hgdp | rs1085307049 |
ensembl | rs1085307049 |
geneview | rs1085307049 |
scholar | rs1085307049 |
rs1085307049 | |
pharmgkb | rs1085307049 |
gwascentral | rs1085307049 |
openSNP | rs1085307049 |
23andMe | rs1085307049 |
SNPshot | rs1085307049 |
SNPdbe | rs1085307049 |
MSV3d | rs1085307049 |
GWAS Ctlg | rs1085307049 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307049(-;-) |
Alt | rs1085307049(-;-) |
Reference | Rs1085307049(ATT;ATT) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | CLRN1 |
CLNDBN | Usher syndrome, type 3A |
Reversed | 1 |
HGVS | NC_000003.11:g.150645961_150645963delAAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004644.3, |