rs398123044
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123044(C;T) |
Make rs398123044(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 13381577 |
Gene | RAB28 |
is a | snp |
is | mentioned by |
dbSNP | rs398123044 |
dbSNP (classic) | rs398123044 |
ClinGen | rs398123044 |
ebi | rs398123044 |
HLI | rs398123044 |
Exac | rs398123044 |
Gnomad | rs398123044 |
Varsome | rs398123044 |
LitVar | rs398123044 |
Map | rs398123044 |
PheGenI | rs398123044 |
Biobank | rs398123044 |
1000 genomes | rs398123044 |
hgdp | rs398123044 |
ensembl | rs398123044 |
geneview | rs398123044 |
scholar | rs398123044 |
rs398123044 | |
pharmgkb | rs398123044 |
gwascentral | rs398123044 |
openSNP | rs398123044 |
23andMe | rs398123044 |
SNPshot | rs398123044 |
SNPdbe | rs398123044 |
MSV3d | rs398123044 |
GWAS Ctlg | rs398123044 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123044(G;G) rs398123044(T;T) |
Alt | rs398123044(G;G) rs398123044(T;T) |
Reference | Rs398123044(C;C) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 18 |
Variation | info |
Gene | RAB28 |
CLNDBN | Cone-rod dystrophy 18 |
Reversed | 1 |
HGVS | NC_000004.11:g.13383201G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054528.3, |