rs199469480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199469480(A;T) |
Make rs199469480(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 127428540 |
Gene | LOC105373608, PROC |
is a | snp |
is | mentioned by |
dbSNP | rs199469480 |
dbSNP (classic) | rs199469480 |
ClinGen | rs199469480 |
ebi | rs199469480 |
HLI | rs199469480 |
Exac | rs199469480 |
Gnomad | rs199469480 |
Varsome | rs199469480 |
LitVar | rs199469480 |
Map | rs199469480 |
PheGenI | rs199469480 |
Biobank | rs199469480 |
1000 genomes | rs199469480 |
hgdp | rs199469480 |
ensembl | rs199469480 |
geneview | rs199469480 |
scholar | rs199469480 |
rs199469480 | |
pharmgkb | rs199469480 |
gwascentral | rs199469480 |
openSNP | rs199469480 |
23andMe | rs199469480 |
SNPshot | rs199469480 |
SNPdbe | rs199469480 |
MSV3d | rs199469480 |
GWAS Ctlg | rs199469480 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199469480(T;T) |
Alt | rs199469480(T;T) |
Reference | Rs199469480(A;A) |
Significance | Probable-Pathogenic |
Disease | Thrombophilia |
Variation | info |
Gene | PROC |
CLNDBN | Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.128186116A>T |
CLNSRC | |
CLNACC |