rs267606690
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606690(A;T) |
Make rs267606690(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 29073661 |
Gene | C2orf71 |
is a | snp |
is | mentioned by |
dbSNP | rs267606690 |
dbSNP (classic) | rs267606690 |
ClinGen | rs267606690 |
ebi | rs267606690 |
HLI | rs267606690 |
Exac | rs267606690 |
Gnomad | rs267606690 |
Varsome | rs267606690 |
LitVar | rs267606690 |
Map | rs267606690 |
PheGenI | rs267606690 |
Biobank | rs267606690 |
1000 genomes | rs267606690 |
hgdp | rs267606690 |
ensembl | rs267606690 |
geneview | rs267606690 |
scholar | rs267606690 |
rs267606690 | |
pharmgkb | rs267606690 |
gwascentral | rs267606690 |
openSNP | rs267606690 |
23andMe | rs267606690 |
SNPshot | rs267606690 |
SNPdbe | rs267606690 |
MSV3d | rs267606690 |
GWAS Ctlg | rs267606690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606690(T;T) |
Alt | rs267606690(T;T) |
Reference | Rs267606690(A;A) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 54 |
Variation | info |
Gene | C2orf71 |
CLNDBN | Retinitis pigmentosa 54 |
Reversed | 1 |
HGVS | NC_000002.11:g.29296527T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000122.3, |