rs104893946
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893946(C;G) |
Make rs104893946(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 79916743 |
Gene | ELOVL4 |
is a | snp |
is | mentioned by |
dbSNP | rs104893946 |
dbSNP (classic) | rs104893946 |
ClinGen | rs104893946 |
ebi | rs104893946 |
HLI | rs104893946 |
Exac | rs104893946 |
Gnomad | rs104893946 |
Varsome | rs104893946 |
LitVar | rs104893946 |
Map | rs104893946 |
PheGenI | rs104893946 |
Biobank | rs104893946 |
1000 genomes | rs104893946 |
hgdp | rs104893946 |
ensembl | rs104893946 |
geneview | rs104893946 |
scholar | rs104893946 |
rs104893946 | |
pharmgkb | rs104893946 |
gwascentral | rs104893946 |
openSNP | rs104893946 |
23andMe | rs104893946 |
SNPshot | rs104893946 |
SNPdbe | rs104893946 |
MSV3d | rs104893946 |
GWAS Ctlg | rs104893946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893946(G;G) |
Alt | rs104893946(G;G) |
Reference | Rs104893946(C;C) |
Significance | Pathogenic |
Disease | Stargardt Disease 3 |
Variation | info |
Gene | ELOVL4 |
CLNDBN | Stargardt Disease 3 |
Reversed | 1 |
HGVS | NC_000006.11:g.80626460G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005228.3, |