rs397515359
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397515359(-;C) |
Make rs397515359(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17531408 |
Gene | USH1C |
is a | snp |
is | mentioned by |
dbSNP | rs397515359 |
dbSNP (classic) | rs397515359 |
ClinGen | rs397515359 |
ebi | rs397515359 |
HLI | rs397515359 |
Exac | rs397515359 |
Gnomad | rs397515359 |
Varsome | rs397515359 |
LitVar | rs397515359 |
Map | rs397515359 |
PheGenI | rs397515359 |
Biobank | rs397515359 |
1000 genomes | rs397515359 |
hgdp | rs397515359 |
ensembl | rs397515359 |
geneview | rs397515359 |
scholar | rs397515359 |
rs397515359 | |
pharmgkb | rs397515359 |
gwascentral | rs397515359 |
openSNP | rs397515359 |
23andMe | rs397515359 |
SNPshot | rs397515359 |
SNPdbe | rs397515359 |
MSV3d | rs397515359 |
GWAS Ctlg | rs397515359 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515359(C;C) |
Alt | rs397515359(C;C) |
Reference | Rs397515359(-;-) |
Significance | Pathogenic |
Disease | Usher syndrome Usher syndrome |
Variation | info |
Gene | USH1C |
CLNDBN | Usher syndrome, type 1C Usher syndrome, type 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.17552956dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005448.6, RCV000213574.1, |