rs61748537
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 3 | Carrier of a mutation for Stargardt disease |
(G;G) | 0 | common in clinvar |
Make rs61748537(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94098906 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61748537 |
dbSNP (classic) | rs61748537 |
ClinGen | rs61748537 |
ebi | rs61748537 |
HLI | rs61748537 |
Exac | rs61748537 |
Gnomad | rs61748537 |
Varsome | rs61748537 |
LitVar | rs61748537 |
Map | rs61748537 |
PheGenI | rs61748537 |
Biobank | rs61748537 |
1000 genomes | rs61748537 |
hgdp | rs61748537 |
ensembl | rs61748537 |
geneview | rs61748537 |
scholar | rs61748537 |
rs61748537 | |
pharmgkb | rs61748537 |
gwascentral | rs61748537 |
openSNP | rs61748537 |
23andMe | rs61748537 |
SNPshot | rs61748537 |
SNPdbe | rs61748537 |
MSV3d | rs61748537 |
GWAS Ctlg | rs61748537 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs61748537(A;A) rs61748537(C;C) |
Alt | rs61748537(A;A) rs61748537(C;C) |
Reference | Rs61748537(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Stargardt disease 1 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.94564462C>G |
CLNSRC | |
CLNACC | RCV000085831.2, RCV000408468.1, |