rs76216585
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs76216585(C;T) |
Make rs76216585(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 89492071 |
Gene | POC1B |
is a | snp |
is | mentioned by |
dbSNP | rs76216585 |
dbSNP (classic) | rs76216585 |
ClinGen | rs76216585 |
ebi | rs76216585 |
HLI | rs76216585 |
Exac | rs76216585 |
Gnomad | rs76216585 |
Varsome | rs76216585 |
LitVar | rs76216585 |
Map | rs76216585 |
PheGenI | rs76216585 |
Biobank | rs76216585 |
1000 genomes | rs76216585 |
hgdp | rs76216585 |
ensembl | rs76216585 |
geneview | rs76216585 |
scholar | rs76216585 |
rs76216585 | |
pharmgkb | rs76216585 |
gwascentral | rs76216585 |
openSNP | rs76216585 |
23andMe | rs76216585 |
SNPshot | rs76216585 |
SNPdbe | rs76216585 |
MSV3d | rs76216585 |
GWAS Ctlg | rs76216585 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76216585(A;A) rs76216585(G;G) rs76216585(T;T) |
Alt | rs76216585(A;A) rs76216585(G;G) rs76216585(T;T) |
Reference | Rs76216585(C;C) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 20 |
Variation | info |
Gene | POC1B |
CLNDBN | Cone-rod dystrophy 20 |
Reversed | 0 |
HGVS | NC_000012.11:g.89885848C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000143862.4, |