rs764899074
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs764899074(-;-) |
Make rs764899074(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 4801292 |
Gene | ROGDI |
is a | snp |
is | mentioned by |
dbSNP | rs764899074 |
dbSNP (classic) | rs764899074 |
ClinGen | rs764899074 |
ebi | rs764899074 |
HLI | rs764899074 |
Exac | rs764899074 |
Gnomad | rs764899074 |
Varsome | rs764899074 |
LitVar | rs764899074 |
Map | rs764899074 |
PheGenI | rs764899074 |
Biobank | rs764899074 |
1000 genomes | rs764899074 |
hgdp | rs764899074 |
ensembl | rs764899074 |
geneview | rs764899074 |
scholar | rs764899074 |
rs764899074 | |
pharmgkb | rs764899074 |
gwascentral | rs764899074 |
openSNP | rs764899074 |
23andMe | rs764899074 |
SNPshot | rs764899074 |
SNPdbe | rs764899074 |
MSV3d | rs764899074 |
GWAS Ctlg | rs764899074 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764899074(-;-) |
Alt | rs764899074(-;-) |
Reference | Rs764899074(AG;AG) |
Significance | Pathogenic |
Disease | Kohlschutter's syndrome |
Variation | info |
Gene | ROGDI |
CLNDBN | Kohlschutter's syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.4851293_4851294delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024224.4, |