rs397516303
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGGACCTTTG;AAGGACCTTTG) | 0 | common in clinvar |
(GAAGGACCTTT;GAAGGACCTTT) | 0 | common in clinvar |
Make rs397516303(-;-) |
Make rs397516303(-;AAGGACCTTTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77190085 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs397516303 |
dbSNP (classic) | rs397516303 |
ClinGen | rs397516303 |
ebi | rs397516303 |
HLI | rs397516303 |
Exac | rs397516303 |
Gnomad | rs397516303 |
Varsome | rs397516303 |
LitVar | rs397516303 |
Map | rs397516303 |
PheGenI | rs397516303 |
Biobank | rs397516303 |
1000 genomes | rs397516303 |
hgdp | rs397516303 |
ensembl | rs397516303 |
geneview | rs397516303 |
scholar | rs397516303 |
rs397516303 | |
pharmgkb | rs397516303 |
gwascentral | rs397516303 |
openSNP | rs397516303 |
23andMe | rs397516303 |
SNPshot | rs397516303 |
SNPdbe | rs397516303 |
MSV3d | rs397516303 |
GWAS Ctlg | rs397516303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516303(-;-) |
Alt | rs397516303(-;-) |
Reference | Rs397516303(GAAGGACCTTT;GAAGGACCTTT) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.76901130_76901140delAAGGACCTTTG |
CLNSRC | ClinVar |
CLNACC | RCV000036121.2, |