rs201738997
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 rs201738997(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94121045 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs201738997 |
dbSNP (classic) | rs201738997 |
ClinGen | rs201738997 |
ebi | rs201738997 |
HLI | rs201738997 |
Exac | rs201738997 |
Gnomad | rs201738997 |
Varsome | rs201738997 |
LitVar | rs201738997 |
Map | rs201738997 |
PheGenI | rs201738997 |
Biobank | rs201738997 |
1000 genomes | rs201738997 |
hgdp | rs201738997 |
ensembl | rs201738997 |
geneview | rs201738997 |
scholar | rs201738997 |
rs201738997 | |
pharmgkb | rs201738997 |
gwascentral | rs201738997 |
openSNP | rs201738997 |
23andMe | rs201738997 |
SNPshot | rs201738997 |
SNPdbe | rs201738997 |
MSV3d | rs201738997 |
GWAS Ctlg | rs201738997 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs201738997(C;C) |
Alt | rs201738997(C;C) |
Reference | Rs201738997(T;T) |
Significance | Pathogenic |
Disease | not provided Stargardt disease 1 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 |
Reversed | 0 |
HGVS | NC_000001.10:g.94586601T>C |
CLNSRC | |
CLNACC | RCV000085454.2, RCV000408483.1, RCV000408532.1, |