rs138138689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138138689(C;T) |
Make rs138138689(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 17527222 |
Gene | USH1C |
is a | snp |
is | mentioned by |
dbSNP | rs138138689 |
dbSNP (classic) | rs138138689 |
ClinGen | rs138138689 |
ebi | rs138138689 |
HLI | rs138138689 |
Exac | rs138138689 |
Gnomad | rs138138689 |
Varsome | rs138138689 |
LitVar | rs138138689 |
Map | rs138138689 |
PheGenI | rs138138689 |
Biobank | rs138138689 |
1000 genomes | rs138138689 |
hgdp | rs138138689 |
ensembl | rs138138689 |
geneview | rs138138689 |
scholar | rs138138689 |
rs138138689 | |
pharmgkb | rs138138689 |
gwascentral | rs138138689 |
openSNP | rs138138689 |
23andMe | rs138138689 |
SNPshot | rs138138689 |
SNPdbe | rs138138689 |
MSV3d | rs138138689 |
GWAS Ctlg | rs138138689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138138689(A;A) rs138138689(G;G) rs138138689(T;T) |
Alt | rs138138689(A;A) rs138138689(G;G) rs138138689(T;T) |
Reference | Rs138138689(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome Deafness |
Variation | info |
Gene | USH1C |
CLNDBN | Usher syndrome, type 1C Deafness, autosomal recessive 18 |
Reversed | 0 |
HGVS | NC_000011.9:g.17548769C>T |
CLNSRC | |
CLNACC | RCV000411458.1, RCV000412131.1, |