rs794728002
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGCCAGCCCTGGA;AGCCAGCCCTGGA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs794728002(-;-) |
Make rs794728002(-;AGCCAGCCCTGGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 29071494 |
Gene | C2orf71 |
is a | snp |
is | mentioned by |
dbSNP | rs794728002 |
dbSNP (classic) | rs794728002 |
ClinGen | rs794728002 |
ebi | rs794728002 |
HLI | rs794728002 |
Exac | rs794728002 |
Gnomad | rs794728002 |
Varsome | rs794728002 |
LitVar | rs794728002 |
Map | rs794728002 |
PheGenI | rs794728002 |
Biobank | rs794728002 |
1000 genomes | rs794728002 |
hgdp | rs794728002 |
ensembl | rs794728002 |
geneview | rs794728002 |
scholar | rs794728002 |
rs794728002 | |
pharmgkb | rs794728002 |
gwascentral | rs794728002 |
openSNP | rs794728002 |
23andMe | rs794728002 |
SNPshot | rs794728002 |
SNPdbe | rs794728002 |
MSV3d | rs794728002 |
GWAS Ctlg | rs794728002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728002(-;-) |
Alt | rs794728002(-;-) |
Reference | Rs794728002(AGCCAGCCCTGGA;AGCCAGCCCTGGA) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 54 |
Variation | info |
Gene | C2orf71 |
CLNDBN | Retinitis pigmentosa 54 |
Reversed | 1 |
HGVS | NC_000002.11:g.29294360_29294372delTCCAGGGCTGGCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000125.3, |