rs797046132
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797046132(-;-) |
Make rs797046132(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 89178533 |
Gene | LOC107984363, TYR |
is a | snp |
is | mentioned by |
dbSNP | rs797046132 |
dbSNP (classic) | rs797046132 |
ClinGen | rs797046132 |
ebi | rs797046132 |
HLI | rs797046132 |
Exac | rs797046132 |
Gnomad | rs797046132 |
Varsome | rs797046132 |
LitVar | rs797046132 |
Map | rs797046132 |
PheGenI | rs797046132 |
Biobank | rs797046132 |
1000 genomes | rs797046132 |
hgdp | rs797046132 |
ensembl | rs797046132 |
geneview | rs797046132 |
scholar | rs797046132 |
rs797046132 | |
pharmgkb | rs797046132 |
gwascentral | rs797046132 |
openSNP | rs797046132 |
23andMe | rs797046132 |
SNPshot | rs797046132 |
SNPdbe | rs797046132 |
MSV3d | rs797046132 |
GWAS Ctlg | rs797046132 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046132(-;-) |
Alt | rs797046132(-;-) |
Reference | Rs797046132(A;A) |
Significance | Probable-Pathogenic |
Disease | Tyrosinase-negative oculocutaneous albinism |
Variation | info |
Gene | TYR |
CLNDBN | Tyrosinase-negative oculocutaneous albinism |
Reversed | 0 |
HGVS | NC_000011.9:g.88911701delA |
CLNSRC | |
CLNACC | RCV000194340.1, |