rs104893848
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104893848(A;A) |
Make rs104893848(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 154744851 |
Gene | LRAT |
is a | snp |
is | mentioned by |
dbSNP | rs104893848 |
dbSNP (classic) | rs104893848 |
ClinGen | rs104893848 |
ebi | rs104893848 |
HLI | rs104893848 |
Exac | rs104893848 |
Gnomad | rs104893848 |
Varsome | rs104893848 |
LitVar | rs104893848 |
Map | rs104893848 |
PheGenI | rs104893848 |
Biobank | rs104893848 |
1000 genomes | rs104893848 |
hgdp | rs104893848 |
ensembl | rs104893848 |
geneview | rs104893848 |
scholar | rs104893848 |
rs104893848 | |
pharmgkb | rs104893848 |
gwascentral | rs104893848 |
openSNP | rs104893848 |
23andMe | rs104893848 |
SNPshot | rs104893848 |
SNPdbe | rs104893848 |
MSV3d | rs104893848 |
GWAS Ctlg | rs104893848 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893848(A;A) rs104893848(C;C) |
Alt | rs104893848(A;A) rs104893848(C;C) |
Reference | Rs104893848(T;T) |
Significance | Pathogenic |
Disease | RETINAL DYSTROPHY not provided |
Variation | info |
Gene | LRAT |
CLNDBN | RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.155666003T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005661.2, RCV000086208.1, |