rs796051879
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CATGGTT;CATGGTT) | 0 | common in clinvar |
Make rs796051879(-;-) |
Make rs796051879(-;ATGGTTC) |
Make rs796051879(ATGGTTC;ATGGTTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 89284864 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs796051879 |
dbSNP (classic) | rs796051879 |
ClinGen | rs796051879 |
ebi | rs796051879 |
HLI | rs796051879 |
Exac | rs796051879 |
Gnomad | rs796051879 |
Varsome | rs796051879 |
LitVar | rs796051879 |
Map | rs796051879 |
PheGenI | rs796051879 |
Biobank | rs796051879 |
1000 genomes | rs796051879 |
hgdp | rs796051879 |
ensembl | rs796051879 |
geneview | rs796051879 |
scholar | rs796051879 |
rs796051879 | |
pharmgkb | rs796051879 |
gwascentral | rs796051879 |
openSNP | rs796051879 |
23andMe | rs796051879 |
SNPshot | rs796051879 |
SNPdbe | rs796051879 |
MSV3d | rs796051879 |
GWAS Ctlg | rs796051879 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051879(-;-) |
Alt | rs796051879(-;-) |
Reference | Rs796051879(CATGGTT;CATGGTT) |
Significance | Probable-Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000011.9:g.89018032_89018038delATGGTTC |
CLNSRC | |
CLNACC | RCV000186573.1, |