Annotation Detail
Information
- Associated Genes
- NELFE
- Associated Variants
-
ENSG00000244255 c.901+62G>T, C2 c.1360+62G>T
(
ENST00000299367.10,
ENST00000442278.6,
ENST00000447952.7,
ENST00000452323.7,
ENST00000469372.5,
ENST00000497706.6,
ENST00000695637.1,
ENST00000695638.1,
ENST00000695644.1 )
NELFE c.*122A>G ( ENST00000375429.8 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.2583+157C>T ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
ENSG00000244255 c.901+62G>T, C2 c.1360+62G>T ( ENST00000299367.10, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 )
NELFE c.*122A>G ( ENST00000375429.8 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.2583+157C>T ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 ) - Associated Disease
- macular degeneration
- Source Database
- DisGeNET
- Description
- The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003).
- Pubmed
- 23260260
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs