rs713993046
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs713993046(G;T) |
Make rs713993046(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 76018717 |
Gene | IMPG1 |
is a | snp |
is | mentioned by |
dbSNP | rs713993046 |
dbSNP (classic) | rs713993046 |
ClinGen | rs713993046 |
ebi | rs713993046 |
HLI | rs713993046 |
Exac | rs713993046 |
Gnomad | rs713993046 |
Varsome | rs713993046 |
LitVar | rs713993046 |
Map | rs713993046 |
PheGenI | rs713993046 |
Biobank | rs713993046 |
1000 genomes | rs713993046 |
hgdp | rs713993046 |
ensembl | rs713993046 |
geneview | rs713993046 |
scholar | rs713993046 |
rs713993046 | |
pharmgkb | rs713993046 |
gwascentral | rs713993046 |
openSNP | rs713993046 |
23andMe | rs713993046 |
SNPshot | rs713993046 |
SNPdbe | rs713993046 |
MSV3d | rs713993046 |
GWAS Ctlg | rs713993046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs713993046(T;T) |
Alt | rs713993046(T;T) |
Reference | Rs713993046(G;G) |
Significance | Pathogenic |
Disease | Macular dystrophy |
Variation | info |
Gene | IMPG1 |
CLNDBN | Macular dystrophy, vitelliform, 4 |
Reversed | 1 |
HGVS | NC_000006.11:g.76728434C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149548.4, |