rs79668755
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79668755(A;A) |
Make rs79668755(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 170480891 |
Gene | LOC101928583, SLC7A14 |
is a | snp |
is | mentioned by |
dbSNP | rs79668755 |
dbSNP (classic) | rs79668755 |
ClinGen | rs79668755 |
ebi | rs79668755 |
HLI | rs79668755 |
Exac | rs79668755 |
Gnomad | rs79668755 |
Varsome | rs79668755 |
LitVar | rs79668755 |
Map | rs79668755 |
PheGenI | rs79668755 |
Biobank | rs79668755 |
1000 genomes | rs79668755 |
hgdp | rs79668755 |
ensembl | rs79668755 |
geneview | rs79668755 |
scholar | rs79668755 |
rs79668755 | |
pharmgkb | rs79668755 |
gwascentral | rs79668755 |
openSNP | rs79668755 |
23andMe | rs79668755 |
SNPshot | rs79668755 |
SNPdbe | rs79668755 |
MSV3d | rs79668755 |
GWAS Ctlg | rs79668755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79668755(A;A) rs79668755(G;G) rs79668755(T;T) |
Alt | rs79668755(A;A) rs79668755(G;G) rs79668755(T;T) |
Reference | Rs79668755(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 68 |
Variation | info |
Gene | LOC101928583 SLC7A14 |
CLNDBN | Retinitis pigmentosa 68 |
Reversed | 0 |
HGVS | NC_000003.11:g.170198680C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000114376.2, |