rs61748536
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61748536(C;T) |
Make rs61748536(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94098944 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61748536 |
dbSNP (classic) | rs61748536 |
ClinGen | rs61748536 |
ebi | rs61748536 |
HLI | rs61748536 |
Exac | rs61748536 |
Gnomad | rs61748536 |
Varsome | rs61748536 |
LitVar | rs61748536 |
Map | rs61748536 |
PheGenI | rs61748536 |
Biobank | rs61748536 |
1000 genomes | rs61748536 |
hgdp | rs61748536 |
ensembl | rs61748536 |
geneview | rs61748536 |
scholar | rs61748536 |
rs61748536 | |
pharmgkb | rs61748536 |
gwascentral | rs61748536 |
openSNP | rs61748536 |
23andMe | rs61748536 |
SNPshot | rs61748536 |
SNPdbe | rs61748536 |
MSV3d | rs61748536 |
GWAS Ctlg | rs61748536 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61748536(G;G) rs61748536(T;T) |
Alt | rs61748536(G;G) rs61748536(T;T) |
Reference | Rs61748536(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | not specified not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94564500G>A; NC_000001.10:g.94564500G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000436499.1, RCV000085793.3, RCV000391995.1, |