rs786205124
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs786205124(-;-) |
Make rs786205124(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 4798593 |
Gene | ROGDI |
is a | snp |
is | mentioned by |
dbSNP | rs786205124 |
dbSNP (classic) | rs786205124 |
ClinGen | rs786205124 |
ebi | rs786205124 |
HLI | rs786205124 |
Exac | rs786205124 |
Gnomad | rs786205124 |
Varsome | rs786205124 |
LitVar | rs786205124 |
Map | rs786205124 |
PheGenI | rs786205124 |
Biobank | rs786205124 |
1000 genomes | rs786205124 |
hgdp | rs786205124 |
ensembl | rs786205124 |
geneview | rs786205124 |
scholar | rs786205124 |
rs786205124 | |
pharmgkb | rs786205124 |
gwascentral | rs786205124 |
openSNP | rs786205124 |
23andMe | rs786205124 |
SNPshot | rs786205124 |
SNPdbe | rs786205124 |
MSV3d | rs786205124 |
GWAS Ctlg | rs786205124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205124(-;-) |
Alt | rs786205124(-;-) |
Reference | Rs786205124(C;C) |
Significance | Pathogenic |
Disease | Kohlschutter's syndrome |
Variation | info |
Gene | ROGDI |
CLNDBN | Kohlschutter's syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.4848594delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034351.5, |