Annotation Detail
Information
- Associated Genes
- GGCT
- Associated Variants
-
COL1A1 c.804+80A>C
(
ENST00000225964.10 )
rs2269336
rs1107946
COL1A1 c.804+80A>C ( ENST00000225964.10 )
rs2269336
rs1107946 - Associated Disease
- Severe myopia
- Source Database
- DisGeNET
- Description
- The frequency of GGC/GGC diplotype constructed by the three SNPs (rs2075555, rs2269336, rs1107946) was significantly high (OR = 1.6) and associated with high myopia (P = 0.028, Pc< 0.084).
- Pubmed
- 17557158
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs