rs61750645
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier of a mutation for Stargardt disease |
Make rs61750645(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94001911 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61750645 |
dbSNP (classic) | rs61750645 |
ClinGen | rs61750645 |
ebi | rs61750645 |
HLI | rs61750645 |
Exac | rs61750645 |
Gnomad | rs61750645 |
Varsome | rs61750645 |
LitVar | rs61750645 |
Map | rs61750645 |
PheGenI | rs61750645 |
Biobank | rs61750645 |
1000 genomes | rs61750645 |
hgdp | rs61750645 |
ensembl | rs61750645 |
geneview | rs61750645 |
scholar | rs61750645 |
rs61750645 | |
pharmgkb | rs61750645 |
gwascentral | rs61750645 |
openSNP | rs61750645 |
23andMe | rs61750645 |
SNPshot | rs61750645 |
SNPdbe | rs61750645 |
MSV3d | rs61750645 |
GWAS Ctlg | rs61750645 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs61750645(G;G) rs61750645(T;T) |
Alt | rs61750645(G;G) rs61750645(T;T) |
Reference | Rs61750645(C;C) |
Significance | Other |
Disease | not provided Retinitis pigmentosa 19 Stargardt disease 1 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Retinitis pigmentosa 19 Stargardt disease 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.94467467G>A; NC_000001.10:g.94467467G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085797.1, RCV000289413.1, RCV000402409.2, RCV000085796.1, |