rs61750064
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(I;I) | 0 |
Make rs61750064(-;GT) |
Make rs61750064(GT;GT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94042878 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61750064 |
dbSNP (classic) | rs61750064 |
ClinGen | rs61750064 |
ebi | rs61750064 |
HLI | rs61750064 |
Exac | rs61750064 |
Gnomad | rs61750064 |
Varsome | rs61750064 |
LitVar | rs61750064 |
Map | rs61750064 |
PheGenI | rs61750064 |
Biobank | rs61750064 |
1000 genomes | rs61750064 |
hgdp | rs61750064 |
ensembl | rs61750064 |
geneview | rs61750064 |
scholar | rs61750064 |
rs61750064 | |
pharmgkb | rs61750064 |
gwascentral | rs61750064 |
openSNP | rs61750064 |
23andMe | rs61750064 |
SNPshot | rs61750064 |
SNPdbe | rs61750064 |
MSV3d | rs61750064 |
GWAS Ctlg | rs61750064 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750064(GT;GT) |
Alt | rs61750064(GT;GT) |
Reference | Rs61750064(-;-) |
Significance | Pathogenic |
Disease | Stargardt disease 1 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Stargardt disease 1 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94508434_94508435insAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008338.3, RCV000085558.1, |