rs104894611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894611(C;G) |
Make rs104894611(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 56594327 |
Gene | NOG |
is a | snp |
is | mentioned by |
dbSNP | rs104894611 |
dbSNP (classic) | rs104894611 |
ClinGen | rs104894611 |
ebi | rs104894611 |
HLI | rs104894611 |
Exac | rs104894611 |
Gnomad | rs104894611 |
Varsome | rs104894611 |
LitVar | rs104894611 |
Map | rs104894611 |
PheGenI | rs104894611 |
Biobank | rs104894611 |
1000 genomes | rs104894611 |
hgdp | rs104894611 |
ensembl | rs104894611 |
geneview | rs104894611 |
scholar | rs104894611 |
rs104894611 | |
pharmgkb | rs104894611 |
gwascentral | rs104894611 |
openSNP | rs104894611 |
23andMe | rs104894611 |
SNPshot | rs104894611 |
SNPdbe | rs104894611 |
MSV3d | rs104894611 |
GWAS Ctlg | rs104894611 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894611(G;G) rs104894611(T;T) |
Alt | rs104894611(G;G) rs104894611(T;T) |
Reference | Rs104894611(C;C) |
Significance | Pathogenic |
Disease | Tarsal carpal coalition syndrome Cushing's symphalangism |
Variation | info |
Gene | NOG |
CLNDBN | Tarsal carpal coalition syndrome Cushing's symphalangism |
Reversed | 0 |
HGVS | NC_000017.10:g.54671688C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007085.3, RCV000049267.2, |