rs121918552
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918552(A;A) |
Make rs121918552(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 25123996 |
Gene | CYCS |
is a | snp |
is | mentioned by |
dbSNP | rs121918552 |
dbSNP (classic) | rs121918552 |
ClinGen | rs121918552 |
ebi | rs121918552 |
HLI | rs121918552 |
Exac | rs121918552 |
Gnomad | rs121918552 |
Varsome | rs121918552 |
LitVar | rs121918552 |
Map | rs121918552 |
PheGenI | rs121918552 |
Biobank | rs121918552 |
1000 genomes | rs121918552 |
hgdp | rs121918552 |
ensembl | rs121918552 |
geneview | rs121918552 |
scholar | rs121918552 |
rs121918552 | |
pharmgkb | rs121918552 |
gwascentral | rs121918552 |
openSNP | rs121918552 |
23andMe | rs121918552 |
SNPshot | rs121918552 |
SNPdbe | rs121918552 |
MSV3d | rs121918552 |
GWAS Ctlg | rs121918552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918552(A;A) |
Alt | rs121918552(A;A) |
Reference | Rs121918552(G;G) |
Significance | Pathogenic |
Disease | Thrombocytopenia 4 |
Variation | info |
Gene | CYCS |
CLNDBN | Thrombocytopenia 4 |
Reversed | 1 |
HGVS | NC_000007.13:g.25163615C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018419.30, |