rs71454844
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs71454844(G;T) |
Make rs71454844(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 1844466 |
Gene | CACNA2D4 |
is a | snp |
is | mentioned by |
dbSNP | rs71454844 |
dbSNP (classic) | rs71454844 |
ClinGen | rs71454844 |
ebi | rs71454844 |
HLI | rs71454844 |
Exac | rs71454844 |
Gnomad | rs71454844 |
Varsome | rs71454844 |
LitVar | rs71454844 |
Map | rs71454844 |
PheGenI | rs71454844 |
Biobank | rs71454844 |
1000 genomes | rs71454844 |
hgdp | rs71454844 |
ensembl | rs71454844 |
geneview | rs71454844 |
scholar | rs71454844 |
rs71454844 | |
pharmgkb | rs71454844 |
gwascentral | rs71454844 |
openSNP | rs71454844 |
23andMe | rs71454844 |
SNPshot | rs71454844 |
SNPdbe | rs71454844 |
MSV3d | rs71454844 |
GWAS Ctlg | rs71454844 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs71454844(T;T) |
Alt | rs71454844(T;T) |
Reference | Rs71454844(G;G) |
Significance | Pathogenic |
Disease | Retinal cone dystrophy 4 Cone dystrophy 3 |
Variation | info |
Gene | CACNA2D4 |
CLNDBN | Retinal cone dystrophy 4 Cone dystrophy 3 |
Reversed | 0 |
HGVS | NC_000012.11:g.1953632G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002610.3, RCV000284641.1, |