rs61752410
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61752410(-;-) |
Make rs61752410(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 94046949 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61752410 |
dbSNP (classic) | rs61752410 |
ClinGen | rs61752410 |
ebi | rs61752410 |
HLI | rs61752410 |
Exac | rs61752410 |
Gnomad | rs61752410 |
Varsome | rs61752410 |
LitVar | rs61752410 |
Map | rs61752410 |
PheGenI | rs61752410 |
Biobank | rs61752410 |
1000 genomes | rs61752410 |
hgdp | rs61752410 |
ensembl | rs61752410 |
geneview | rs61752410 |
scholar | rs61752410 |
rs61752410 | |
pharmgkb | rs61752410 |
gwascentral | rs61752410 |
openSNP | rs61752410 |
23andMe | rs61752410 |
SNPshot | rs61752410 |
SNPdbe | rs61752410 |
MSV3d | rs61752410 |
GWAS Ctlg | rs61752410 |
Merged from | Rs281865379 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752410(-;-) |
Alt | rs61752410(-;-) |
Reference | Rs61752410(C;C) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 3 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Cone-rod dystrophy 3 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.94512505delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008363.3, RCV000085520.1, |