rs587777153
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777153(-;GCTCTCAGATATGGAGTCT) |
Make rs587777153(GCTCTCAGATATGGAGTCT;GCTCTCAGATATGGAGTCT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 135150500 |
Gene | RAB3GAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777153 |
dbSNP (classic) | rs587777153 |
ClinGen | rs587777153 |
ebi | rs587777153 |
HLI | rs587777153 |
Exac | rs587777153 |
Gnomad | rs587777153 |
Varsome | rs587777153 |
LitVar | rs587777153 |
Map | rs587777153 |
PheGenI | rs587777153 |
Biobank | rs587777153 |
1000 genomes | rs587777153 |
hgdp | rs587777153 |
ensembl | rs587777153 |
geneview | rs587777153 |
scholar | rs587777153 |
rs587777153 | |
pharmgkb | rs587777153 |
gwascentral | rs587777153 |
openSNP | rs587777153 |
23andMe | rs587777153 |
SNPshot | rs587777153 |
SNPdbe | rs587777153 |
MSV3d | rs587777153 |
GWAS Ctlg | rs587777153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777153(GTCTGCTCTCAGATATGGA;GTCTGCTCTCAGATATGGA) |
Alt | rs587777153(GTCTGCTCTCAGATATGGA;GTCTGCTCTCAGATATGGA) |
Reference | Rs587777153(-;-) |
Significance | Pathogenic |
Disease | Warburg micro syndrome 1 |
Variation | info |
Gene | RAB3GAP1 |
CLNDBN | Warburg micro syndrome 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.135908052_135908070dup19 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087134.5, |