rs104894602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894602(A;G) |
Make rs104894602(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 56594888 |
Gene | NOG |
is a | snp |
is | mentioned by |
dbSNP | rs104894602 |
dbSNP (classic) | rs104894602 |
ClinGen | rs104894602 |
ebi | rs104894602 |
HLI | rs104894602 |
Exac | rs104894602 |
Gnomad | rs104894602 |
Varsome | rs104894602 |
LitVar | rs104894602 |
Map | rs104894602 |
PheGenI | rs104894602 |
Biobank | rs104894602 |
1000 genomes | rs104894602 |
hgdp | rs104894602 |
ensembl | rs104894602 |
geneview | rs104894602 |
scholar | rs104894602 |
rs104894602 | |
pharmgkb | rs104894602 |
gwascentral | rs104894602 |
openSNP | rs104894602 |
23andMe | rs104894602 |
SNPshot | rs104894602 |
SNPdbe | rs104894602 |
MSV3d | rs104894602 |
GWAS Ctlg | rs104894602 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894602(G;G) |
Alt | rs104894602(G;G) |
Reference | Rs104894602(A;A) |
Significance | Pathogenic |
Disease | Cushing's symphalangism Tarsal carpal coalition syndrome |
Variation | info |
Gene | NOG |
CLNDBN | Cushing's symphalangism Tarsal carpal coalition syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.54672249A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007079.4, RCV000007087.2, |