rs587776613
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGTTA;AGTTA) | 0 | common in clinvar |
(TAACT;TAACT) | 0 | common in clinvar |
(TAACTT;TAACTT) | 0 | common in clinvar |
Make rs587776613(AGTTA;GTT) |
Make rs587776613(GTT;GTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 79916760 |
Gene | ELOVL4 |
is a | snp |
is | mentioned by |
dbSNP | rs587776613 |
dbSNP (classic) | rs587776613 |
ClinGen | rs587776613 |
ebi | rs587776613 |
HLI | rs587776613 |
Exac | rs587776613 |
Gnomad | rs587776613 |
Varsome | rs587776613 |
LitVar | rs587776613 |
Map | rs587776613 |
PheGenI | rs587776613 |
Biobank | rs587776613 |
1000 genomes | rs587776613 |
hgdp | rs587776613 |
ensembl | rs587776613 |
geneview | rs587776613 |
scholar | rs587776613 |
rs587776613 | |
pharmgkb | rs587776613 |
gwascentral | rs587776613 |
openSNP | rs587776613 |
23andMe | rs587776613 |
SNPshot | rs587776613 |
SNPdbe | rs587776613 |
MSV3d | rs587776613 |
GWAS Ctlg | rs587776613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776613(AGTTA;AGTTA) rs587776613(GTT;GTT) |
Alt | Rs587776613(AGTTA;AGTTA) rs587776613(GTT;GTT) |
Reference | Rs587776613(TAACT;TAACT) |
Significance | Pathogenic |
Disease | Stargardt Disease 3 |
Variation | info |
Gene | ELOVL4 |
CLNDBN | Stargardt Disease 3 |
Reversed | 1 |
HGVS | NC_000006.11:g.80626477_80626481delAGTTAinsGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005227.4, |