Rs1013579
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1013579 |
| hapmap | rs1013579 |
| hgdp | rs1013579 |
| ensembl | rs1013579 |
| gopubmed | rs1013579 |
| scholar | rs1013579 |
| rs1013579 | |
| pharmgkb | rs1013579 |
| hgvbaseg2p | rs1013579 |
| medrefsnp | rs1013579 |
| 23andMe | rs1013579 |
| SNP Nexus |
| Gene | C8B |
| Chromosome | 1 |
| Orientation | minus |
| Position | 57195071 |
| Genotype | Effect |
|---|---|
| rs1013579(A;A)* | ? |
| rs1013579(A;G)* | ? |
| rs1013579(G;G)* | ? |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1013579(T;T) | 00 |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | C8B |
| allele | T |
| frequency | 0.95 |
| sift | TOLERATED |
| HuRef | 1103675100407 |
| Disease Association | Defects in C8B are a cause of complement C8 deficiency type II (MIM:120960). Patients with deficiency of C8 suffer from recurrent bacterial infections, predominantly from Neisseria meningitidis. |
| ? | (A;A) (A;G) |
|---|---|
|
| |
