rs61750137
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mutation for Stargardt disease |
Make rs61750137(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94031015 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61750137 |
dbSNP (classic) | rs61750137 |
ClinGen | rs61750137 |
ebi | rs61750137 |
HLI | rs61750137 |
Exac | rs61750137 |
Gnomad | rs61750137 |
Varsome | rs61750137 |
LitVar | rs61750137 |
Map | rs61750137 |
PheGenI | rs61750137 |
Biobank | rs61750137 |
1000 genomes | rs61750137 |
hgdp | rs61750137 |
ensembl | rs61750137 |
geneview | rs61750137 |
scholar | rs61750137 |
rs61750137 | |
pharmgkb | rs61750137 |
gwascentral | rs61750137 |
openSNP | rs61750137 |
23andMe | rs61750137 |
SNPshot | rs61750137 |
SNPdbe | rs61750137 |
MSV3d | rs61750137 |
GWAS Ctlg | rs61750137 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs61750137(T;T) |
Alt | rs61750137(T;T) |
Reference | Rs61750137(C;C) |
Significance | Pathogenic |
Disease | not provided Stargardt disease 1 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.94496571G>A |
CLNSRC | |
CLNACC | RCV000085616.2, RCV000408549.1, |