rs201007090
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Factor XI deficiency |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 186286490 |
Gene | F11, F11-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs201007090 |
dbSNP (classic) | rs201007090 |
ClinGen | rs201007090 |
ebi | rs201007090 |
HLI | rs201007090 |
Exac | rs201007090 |
Gnomad | rs201007090 |
Varsome | rs201007090 |
LitVar | rs201007090 |
Map | rs201007090 |
PheGenI | rs201007090 |
Biobank | rs201007090 |
1000 genomes | rs201007090 |
hgdp | rs201007090 |
ensembl | rs201007090 |
geneview | rs201007090 |
scholar | rs201007090 |
rs201007090 | |
pharmgkb | rs201007090 |
gwascentral | rs201007090 |
openSNP | rs201007090 |
23andMe | rs201007090 |
SNPshot | rs201007090 |
SNPdbe | rs201007090 |
MSV3d | rs201007090 |
GWAS Ctlg | rs201007090 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs201007090(A;A) |
Alt | Rs201007090(A;A) |
Reference | Rs201007090(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary factor XI deficiency disease |
Variation | info |
Gene | F11-AS1 F11 |
CLNDBN | Hereditary factor XI deficiency disease |
Reversed | 0 |
HGVS | NC_000004.11:g.187207644G>A |
CLNSRC | |
CLNACC | RCV000169241.1, |