rs1060505042
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060505042(A;C) |
Make rs1060505042(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 95260534 |
Gene | C8orf37 |
is a | snp |
is | mentioned by |
dbSNP | rs1060505042 |
dbSNP (classic) | rs1060505042 |
ClinGen | rs1060505042 |
ebi | rs1060505042 |
HLI | rs1060505042 |
Exac | rs1060505042 |
Gnomad | rs1060505042 |
Varsome | rs1060505042 |
LitVar | rs1060505042 |
Map | rs1060505042 |
PheGenI | rs1060505042 |
Biobank | rs1060505042 |
1000 genomes | rs1060505042 |
hgdp | rs1060505042 |
ensembl | rs1060505042 |
geneview | rs1060505042 |
scholar | rs1060505042 |
rs1060505042 | |
pharmgkb | rs1060505042 |
gwascentral | rs1060505042 |
openSNP | rs1060505042 |
23andMe | rs1060505042 |
SNPshot | rs1060505042 |
SNPdbe | rs1060505042 |
MSV3d | rs1060505042 |
GWAS Ctlg | rs1060505042 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060505042(C;C) |
Alt | rs1060505042(C;C) |
Reference | Rs1060505042(A;A) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 64 |
Variation | info |
Gene | C8orf37 |
CLNDBN | Retinitis pigmentosa 64 |
Reversed | 1 |
HGVS | NC_000008.10:g.96272762T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477709.1, |