rs201422368
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201422368(C;T) |
Make rs201422368(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 111120539 |
Gene | DRAM2 |
is a | snp |
is | mentioned by |
dbSNP | rs201422368 |
dbSNP (classic) | rs201422368 |
ClinGen | rs201422368 |
ebi | rs201422368 |
HLI | rs201422368 |
Exac | rs201422368 |
Gnomad | rs201422368 |
Varsome | rs201422368 |
LitVar | rs201422368 |
Map | rs201422368 |
PheGenI | rs201422368 |
Biobank | rs201422368 |
1000 genomes | rs201422368 |
hgdp | rs201422368 |
ensembl | rs201422368 |
geneview | rs201422368 |
scholar | rs201422368 |
rs201422368 | |
pharmgkb | rs201422368 |
gwascentral | rs201422368 |
openSNP | rs201422368 |
23andMe | rs201422368 |
SNPshot | rs201422368 |
SNPdbe | rs201422368 |
MSV3d | rs201422368 |
GWAS Ctlg | rs201422368 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201422368(T;T) |
Alt | rs201422368(T;T) |
Reference | Rs201422368(C;C) |
Significance | Pathogenic |
Disease | Retinal dystrophy Cone-rod dystrophy 21 |
Variation | info |
Gene | DRAM2 |
CLNDBN | Retinal dystrophy Cone-rod dystrophy 21 |
Reversed | 0 |
HGVS | NC_000001.10:g.111663161C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172838.1, RCV000186602.2, |