rs587776651
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776651(A;A) |
Make rs587776651(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 135120919 |
Gene | RAB3GAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776651 |
dbSNP (classic) | rs587776651 |
ClinGen | rs587776651 |
ebi | rs587776651 |
HLI | rs587776651 |
Exac | rs587776651 |
Gnomad | rs587776651 |
Varsome | rs587776651 |
LitVar | rs587776651 |
Map | rs587776651 |
PheGenI | rs587776651 |
Biobank | rs587776651 |
1000 genomes | rs587776651 |
hgdp | rs587776651 |
ensembl | rs587776651 |
geneview | rs587776651 |
scholar | rs587776651 |
rs587776651 | |
pharmgkb | rs587776651 |
gwascentral | rs587776651 |
openSNP | rs587776651 |
23andMe | rs587776651 |
SNPshot | rs587776651 |
SNPdbe | rs587776651 |
MSV3d | rs587776651 |
GWAS Ctlg | rs587776651 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776651(A;A) |
Alt | rs587776651(A;A) |
Reference | Rs587776651(G;G) |
Significance | Pathogenic |
Disease | Warburg micro syndrome 1 |
Variation | info |
Gene | RAB3GAP1 |
CLNDBN | Warburg micro syndrome 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.135878489G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007474.4, |