rs61751383
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61751383(C;T) |
Make rs61751383(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94005500 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61751383 |
dbSNP (classic) | rs61751383 |
ClinGen | rs61751383 |
ebi | rs61751383 |
HLI | rs61751383 |
Exac | rs61751383 |
Gnomad | rs61751383 |
Varsome | rs61751383 |
LitVar | rs61751383 |
Map | rs61751383 |
PheGenI | rs61751383 |
Biobank | rs61751383 |
1000 genomes | rs61751383 |
hgdp | rs61751383 |
ensembl | rs61751383 |
geneview | rs61751383 |
scholar | rs61751383 |
rs61751383 | |
pharmgkb | rs61751383 |
gwascentral | rs61751383 |
openSNP | rs61751383 |
23andMe | rs61751383 |
SNPshot | rs61751383 |
SNPdbe | rs61751383 |
MSV3d | rs61751383 |
GWAS Ctlg | rs61751383 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751383(T;T) |
Alt | rs61751383(T;T) |
Reference | Rs61751383(C;C) |
Significance | Pathogenic |
Disease | Retinal dystrophy not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Retinal dystrophy, early-onset severe not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94471056G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008365.3, RCV000085786.1, |