rs749509661
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs749509661(A;A) |
Make rs749509661(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 43038323 |
Gene | CUL7 |
is a | snp |
is | mentioned by |
dbSNP | rs749509661 |
dbSNP (classic) | rs749509661 |
ClinGen | rs749509661 |
ebi | rs749509661 |
HLI | rs749509661 |
Exac | rs749509661 |
Gnomad | rs749509661 |
Varsome | rs749509661 |
LitVar | rs749509661 |
Map | rs749509661 |
PheGenI | rs749509661 |
Biobank | rs749509661 |
1000 genomes | rs749509661 |
hgdp | rs749509661 |
ensembl | rs749509661 |
geneview | rs749509661 |
scholar | rs749509661 |
rs749509661 | |
pharmgkb | rs749509661 |
gwascentral | rs749509661 |
openSNP | rs749509661 |
23andMe | rs749509661 |
SNPshot | rs749509661 |
SNPdbe | rs749509661 |
MSV3d | rs749509661 |
GWAS Ctlg | rs749509661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749509661(A;A) |
Alt | rs749509661(A;A) |
Reference | Rs749509661(G;G) |
Significance | Pathogenic |
Disease | Three M syndrome 1 Inborn genetic diseases |
Variation | info |
Gene | CUL7 |
CLNDBN | Three M syndrome 1 Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000006.11:g.43006061G>A |
CLNSRC | |
CLNACC | RCV000176574.1, RCV000210557.1, |