rs759672616
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a mutation for Stargardt disease |
(T;T) | 0 | common in clinvar |
Make rs759672616(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94021843 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs759672616 |
dbSNP (classic) | rs759672616 |
ClinGen | rs759672616 |
ebi | rs759672616 |
HLI | rs759672616 |
Exac | rs759672616 |
Gnomad | rs759672616 |
Varsome | rs759672616 |
LitVar | rs759672616 |
Map | rs759672616 |
PheGenI | rs759672616 |
Biobank | rs759672616 |
1000 genomes | rs759672616 |
hgdp | rs759672616 |
ensembl | rs759672616 |
geneview | rs759672616 |
scholar | rs759672616 |
rs759672616 | |
pharmgkb | rs759672616 |
gwascentral | rs759672616 |
openSNP | rs759672616 |
23andMe | rs759672616 |
SNPshot | rs759672616 |
SNPdbe | rs759672616 |
MSV3d | rs759672616 |
GWAS Ctlg | rs759672616 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs759672616(C;C) |
Alt | rs759672616(C;C) |
Reference | Rs759672616(T;T) |
Significance | Pathogenic |
Disease | Stargardt disease 1 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Stargardt disease 1 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.94487399T>C |
CLNSRC | |
CLNACC | RCV000408554.1, RCV000425309.1, |