rs1057518787
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCGCCTAGGGACCTTCTGCTGCCCC;GCGCCTAGGGACCTTCTGCTGCCCC) | 0 | common in clinvar |
Make rs1057518787(-;-) |
Make rs1057518787(-;GCGCCTAGGGACCTTCTGCTGCCCC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 9765782 |
Gene | GPR143 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518787 |
dbSNP (classic) | rs1057518787 |
ClinGen | rs1057518787 |
ebi | rs1057518787 |
HLI | rs1057518787 |
Exac | rs1057518787 |
Gnomad | rs1057518787 |
Varsome | rs1057518787 |
LitVar | rs1057518787 |
Map | rs1057518787 |
PheGenI | rs1057518787 |
Biobank | rs1057518787 |
1000 genomes | rs1057518787 |
hgdp | rs1057518787 |
ensembl | rs1057518787 |
geneview | rs1057518787 |
scholar | rs1057518787 |
rs1057518787 | |
pharmgkb | rs1057518787 |
gwascentral | rs1057518787 |
openSNP | rs1057518787 |
23andMe | rs1057518787 |
SNPshot | rs1057518787 |
SNPdbe | rs1057518787 |
MSV3d | rs1057518787 |
GWAS Ctlg | rs1057518787 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518787(-;-) |
Alt | rs1057518787(-;-) |
Reference | Rs1057518787(GCGCCTAGGGACCTTCTGCTGCCCC;GCGCCTAGGGACCTTCTGCTGCCCC) |
Significance | Probable-Pathogenic |
Disease | Nystagmus Ocular albinism Poor eye contact |
Variation | info |
Gene | GPR143 |
CLNDBN | Nystagmus Ocular albinism Poor eye contact |
Reversed | 1 |
HGVS | NC_000023.10:g.9733822_9733846del25 |
CLNSRC | |
CLNACC | RCV000414936.1, |