rs121909675
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121909675(G;G) |
Make rs121909675(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 85553045 |
Gene | GGCX |
is a | snp |
is | mentioned by |
dbSNP | rs121909675 |
dbSNP (classic) | rs121909675 |
ClinGen | rs121909675 |
ebi | rs121909675 |
HLI | rs121909675 |
Exac | rs121909675 |
Gnomad | rs121909675 |
Varsome | rs121909675 |
LitVar | rs121909675 |
Map | rs121909675 |
PheGenI | rs121909675 |
Biobank | rs121909675 |
1000 genomes | rs121909675 |
hgdp | rs121909675 |
ensembl | rs121909675 |
geneview | rs121909675 |
scholar | rs121909675 |
rs121909675 | |
pharmgkb | rs121909675 |
gwascentral | rs121909675 |
openSNP | rs121909675 |
23andMe | rs121909675 |
SNPshot | rs121909675 |
SNPdbe | rs121909675 |
MSV3d | rs121909675 |
GWAS Ctlg | rs121909675 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909675(G;G) |
Alt | rs121909675(G;G) |
Reference | Rs121909675(T;T) |
Significance | Pathogenic |
Disease | Vitamin k-dependent clotting factors |
Variation | info |
Gene | GGCX |
CLNDBN | Vitamin k-dependent clotting factors, combined deficiency of, 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.85780168A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017578.28, |