rs137852297
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852297(A;A) |
Make rs137852297(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 9743637 |
Gene | GPR143 |
is a | snp |
is | mentioned by |
dbSNP | rs137852297 |
dbSNP (classic) | rs137852297 |
ClinGen | rs137852297 |
ebi | rs137852297 |
HLI | rs137852297 |
Exac | rs137852297 |
Gnomad | rs137852297 |
Varsome | rs137852297 |
LitVar | rs137852297 |
Map | rs137852297 |
PheGenI | rs137852297 |
Biobank | rs137852297 |
1000 genomes | rs137852297 |
hgdp | rs137852297 |
ensembl | rs137852297 |
geneview | rs137852297 |
scholar | rs137852297 |
rs137852297 | |
pharmgkb | rs137852297 |
gwascentral | rs137852297 |
openSNP | rs137852297 |
23andMe | rs137852297 |
SNPshot | rs137852297 |
SNPdbe | rs137852297 |
MSV3d | rs137852297 |
GWAS Ctlg | rs137852297 |
Merged from | Rs28935185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852297(A;A) rs137852297(T;T) |
Alt | rs137852297(A;A) rs137852297(T;T) |
Reference | Rs137852297(C;C) |
Significance | Pathogenic |
Disease | Ocular albinism not provided |
Variation | info |
Gene | GPR143 |
CLNDBN | Ocular albinism, type I not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.9711677G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011264.5, RCV000084940.1, |