rs80338902
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338902(G;T) |
Make rs80338902(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 216247118 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs80338902 |
dbSNP (classic) | rs80338902 |
ClinGen | rs80338902 |
ebi | rs80338902 |
HLI | rs80338902 |
Exac | rs80338902 |
Gnomad | rs80338902 |
Varsome | rs80338902 |
LitVar | rs80338902 |
Map | rs80338902 |
PheGenI | rs80338902 |
Biobank | rs80338902 |
1000 genomes | rs80338902 |
hgdp | rs80338902 |
ensembl | rs80338902 |
geneview | rs80338902 |
scholar | rs80338902 |
rs80338902 | |
pharmgkb | rs80338902 |
gwascentral | rs80338902 |
openSNP | rs80338902 |
23andMe | rs80338902 |
SNPshot | rs80338902 |
SNPdbe | rs80338902 |
MSV3d | rs80338902 |
GWAS Ctlg | rs80338902 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338902(T;T) |
Alt | rs80338902(T;T) |
Reference | Rs80338902(G;G) |
Significance | Other |
Disease | Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome not provided USH2A-Related Disorders |
Variation | info |
Gene | USH2A |
CLNDBN | Retinitis pigmentosa 39 Retinitis pigmentosa Usher syndrome, type 2A not provided USH2A-Related Disorders |
Reversed | 1 |
HGVS | NC_000001.10:g.216420460C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002450.6, RCV000032523.2, RCV000041811.3, RCV000174625.2, RCV000239000.1, RCV000404009.1, |
[PMID 10775529] Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
[PMID 12427073] Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
[PMID 10775] [Does anesthesia have an immunosuppressive effect?].
[PMID 10909849] Identification of novel USH2A mutations: implications for the structure of USH2A protein.
[PMID 12112664] Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
[PMID 14970843] Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
[PMID 15325563] Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
[PMID 16098008] Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.