rs104894671
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894671(A;C) |
Make rs104894671(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 47836381 |
Gene | CRX |
is a | snp |
is | mentioned by |
dbSNP | rs104894671 |
dbSNP (classic) | rs104894671 |
ClinGen | rs104894671 |
ebi | rs104894671 |
HLI | rs104894671 |
Exac | rs104894671 |
Gnomad | rs104894671 |
Varsome | rs104894671 |
LitVar | rs104894671 |
Map | rs104894671 |
PheGenI | rs104894671 |
Biobank | rs104894671 |
1000 genomes | rs104894671 |
hgdp | rs104894671 |
ensembl | rs104894671 |
geneview | rs104894671 |
scholar | rs104894671 |
rs104894671 | |
pharmgkb | rs104894671 |
gwascentral | rs104894671 |
openSNP | rs104894671 |
23andMe | rs104894671 |
SNPshot | rs104894671 |
SNPdbe | rs104894671 |
MSV3d | rs104894671 |
GWAS Ctlg | rs104894671 |
Merged from | Rs28939682 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894671(C;C) |
Alt | rs104894671(C;C) |
Reference | Rs104894671(A;A) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 2 not provided |
Variation | info |
Gene | CRX |
CLNDBN | Cone-rod dystrophy 2 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.48339638A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007841.3, RCV000085995.1, |