rs397515345
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCGGACGAGGACAGCGTCTC;TCGGACGAGGACAGCGTCTC) | 0 | common in clinvar |
Make rs397515345(-;-) |
Make rs397515345(-;TCGGACGAGGACAGCGTCTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 74919985 |
Gene | USH1G |
is a | snp |
is | mentioned by |
dbSNP | rs397515345 |
dbSNP (classic) | rs397515345 |
ClinGen | rs397515345 |
ebi | rs397515345 |
HLI | rs397515345 |
Exac | rs397515345 |
Gnomad | rs397515345 |
Varsome | rs397515345 |
LitVar | rs397515345 |
Map | rs397515345 |
PheGenI | rs397515345 |
Biobank | rs397515345 |
1000 genomes | rs397515345 |
hgdp | rs397515345 |
ensembl | rs397515345 |
geneview | rs397515345 |
scholar | rs397515345 |
rs397515345 | |
pharmgkb | rs397515345 |
gwascentral | rs397515345 |
openSNP | rs397515345 |
23andMe | rs397515345 |
SNPshot | rs397515345 |
SNPdbe | rs397515345 |
MSV3d | rs397515345 |
GWAS Ctlg | rs397515345 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515345(-;-) |
Alt | rs397515345(-;-) |
Reference | Rs397515345(TCGGACGAGGACAGCGTCTC;TCGGACGAGGACAGCGTCTC) |
Significance | Pathogenic |
Disease | Usher syndrome Usher syndrome |
Variation | info |
Gene | USH1G |
CLNDBN | Usher syndrome, type 1G Usher syndrome, type 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.72916080_72916099del20 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003050.5, RCV000216021.1, |