rs121918228
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918228(C;T) |
Make rs121918228(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 43038949 |
Gene | CUL7 |
is a | snp |
is | mentioned by |
dbSNP | rs121918228 |
dbSNP (classic) | rs121918228 |
ClinGen | rs121918228 |
ebi | rs121918228 |
HLI | rs121918228 |
Exac | rs121918228 |
Gnomad | rs121918228 |
Varsome | rs121918228 |
LitVar | rs121918228 |
Map | rs121918228 |
PheGenI | rs121918228 |
Biobank | rs121918228 |
1000 genomes | rs121918228 |
hgdp | rs121918228 |
ensembl | rs121918228 |
geneview | rs121918228 |
scholar | rs121918228 |
rs121918228 | |
pharmgkb | rs121918228 |
gwascentral | rs121918228 |
openSNP | rs121918228 |
23andMe | rs121918228 |
SNPshot | rs121918228 |
SNPdbe | rs121918228 |
MSV3d | rs121918228 |
GWAS Ctlg | rs121918228 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918228(T;T) |
Alt | rs121918228(T;T) |
Reference | Rs121918228(C;C) |
Significance | Pathogenic |
Disease | Three M syndrome 1 |
Variation | info |
Gene | CUL7 |
CLNDBN | Three M syndrome 1 |
Reversed | 1 |
HGVS | NC_000006.11:g.43006687G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001680.2, |