Rs3753394
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs3753394 |
| hapmap | rs3753394 |
| hgdp | rs3753394 |
| ensembl | rs3753394 |
| gopubmed | rs3753394 |
| scholar | rs3753394 |
| rs3753394 | |
| pharmgkb | rs3753394 |
| hgvbaseg2p | rs3753394 |
| medrefsnp | rs3753394 |
| 23andMe | rs3753394 |
| SNP Nexus |
| Gene | CFH |
| Chromosome | 1 |
| Orientation | plus |
| Position | 194887539 |
| Genotype | Effect |
|---|---|
| rs3753394(C;C)* | ? |
| rs3753394(C;T)* | ? |
| rs3753394(T;T)* | ? |
linked to blindness in old age
rs3753394 carries a significantly increased risk for exudative AMD. [PMID 17167412]
linked to rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428
Significant associations were detected for AMD with rs3753394 rs800292 rs1329428
A haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMD
CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese [PMID 16710702]
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
[PMID 19162324] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis
