rs746523071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs746523071(-;T) |
Make rs746523071(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 150928132 |
Gene | CLRN1 |
is a | snp |
is | mentioned by |
dbSNP | rs746523071 |
dbSNP (classic) | rs746523071 |
ClinGen | rs746523071 |
ebi | rs746523071 |
HLI | rs746523071 |
Exac | rs746523071 |
Gnomad | rs746523071 |
Varsome | rs746523071 |
LitVar | rs746523071 |
Map | rs746523071 |
PheGenI | rs746523071 |
Biobank | rs746523071 |
1000 genomes | rs746523071 |
hgdp | rs746523071 |
ensembl | rs746523071 |
geneview | rs746523071 |
scholar | rs746523071 |
rs746523071 | |
pharmgkb | rs746523071 |
gwascentral | rs746523071 |
openSNP | rs746523071 |
23andMe | rs746523071 |
SNPshot | rs746523071 |
SNPdbe | rs746523071 |
MSV3d | rs746523071 |
GWAS Ctlg | rs746523071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746523071(T;T) |
Alt | rs746523071(T;T) |
Reference | Rs746523071(-;-) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | CLRN1 |
CLNDBN | Usher syndrome, type 3A |
Reversed | 0 |
HGVS | NC_000003.11:g.150645920dupT |
CLNSRC | |
CLNACC | RCV000169229.1, |