rs794727324
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACCTT;ACCTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TTACC;TTACC) | 0 | common in clinvar |
Make rs794727324(-;-) |
Make rs794727324(-;ACCTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 135162608 |
Gene | RAB3GAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727324 |
dbSNP (classic) | rs794727324 |
ClinGen | rs794727324 |
ebi | rs794727324 |
HLI | rs794727324 |
Exac | rs794727324 |
Gnomad | rs794727324 |
Varsome | rs794727324 |
LitVar | rs794727324 |
Map | rs794727324 |
PheGenI | rs794727324 |
Biobank | rs794727324 |
1000 genomes | rs794727324 |
hgdp | rs794727324 |
ensembl | rs794727324 |
geneview | rs794727324 |
scholar | rs794727324 |
rs794727324 | |
pharmgkb | rs794727324 |
gwascentral | rs794727324 |
openSNP | rs794727324 |
23andMe | rs794727324 |
SNPshot | rs794727324 |
SNPdbe | rs794727324 |
MSV3d | rs794727324 |
GWAS Ctlg | rs794727324 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727324(-;-) Rs794727324(TTACC;TTACC) |
Alt | rs794727324(-;-) Rs794727324(TTACC;TTACC) |
Reference | Rs794727324(ACCTT;ACCTT) |
Significance | Pathogenic |
Disease | Warburg micro syndrome 1 |
Variation | info |
Gene | RAB3GAP1 |
CLNDBN | Warburg micro syndrome 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.135920178_135920182delACCTT |
CLNSRC | |
CLNACC | RCV000176089.1, |