rs730882182
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730882182(-;-) |
Make rs730882182(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 135168636 |
Gene | RAB3GAP1, ZRANB3 |
is a | snp |
is | mentioned by |
dbSNP | rs730882182 |
dbSNP (classic) | rs730882182 |
ClinGen | rs730882182 |
ebi | rs730882182 |
HLI | rs730882182 |
Exac | rs730882182 |
Gnomad | rs730882182 |
Varsome | rs730882182 |
LitVar | rs730882182 |
Map | rs730882182 |
PheGenI | rs730882182 |
Biobank | rs730882182 |
1000 genomes | rs730882182 |
hgdp | rs730882182 |
ensembl | rs730882182 |
geneview | rs730882182 |
scholar | rs730882182 |
rs730882182 | |
pharmgkb | rs730882182 |
gwascentral | rs730882182 |
openSNP | rs730882182 |
23andMe | rs730882182 |
SNPshot | rs730882182 |
SNPdbe | rs730882182 |
MSV3d | rs730882182 |
GWAS Ctlg | rs730882182 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882182(-;-) |
Alt | rs730882182(-;-) |
Reference | Rs730882182(C;C) |
Significance | Pathogenic |
Disease | Warburg micro syndrome 1 |
Variation | info |
Gene | RAB3GAP1 |
CLNDBN | Warburg micro syndrome 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.135926206delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007472.3, |