rs370983472
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370983472(A;A) |
Make rs370983472(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 71799629 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs370983472 |
dbSNP (classic) | rs370983472 |
ClinGen | rs370983472 |
ebi | rs370983472 |
HLI | rs370983472 |
Exac | rs370983472 |
Gnomad | rs370983472 |
Varsome | rs370983472 |
LitVar | rs370983472 |
Map | rs370983472 |
PheGenI | rs370983472 |
Biobank | rs370983472 |
1000 genomes | rs370983472 |
hgdp | rs370983472 |
ensembl | rs370983472 |
geneview | rs370983472 |
scholar | rs370983472 |
rs370983472 | |
pharmgkb | rs370983472 |
gwascentral | rs370983472 |
openSNP | rs370983472 |
23andMe | rs370983472 |
SNPshot | rs370983472 |
SNPdbe | rs370983472 |
MSV3d | rs370983472 |
GWAS Ctlg | rs370983472 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370983472(A;A) |
Alt | rs370983472(A;A) |
Reference | Rs370983472(G;G) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome not specified |
Variation | info |
Gene | CDH23 |
CLNDBN | Usher syndrome, type 1D not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.73559386G>A |
CLNSRC | ClinVar |
CLNACC | RCV000039265.3, RCV000483242.1, |