Annotation Detail
Information
- Associated Genes
- SKIC2
- Associated Variants
-
SKIC2 p.Gln151Arg (p.Q151R)
(
ENST00000375394.7,
ENST00000491994.2,
ENST00000697831.1,
ENST00000697838.1,
ENST00000697840.1 )
SKIC2 c.1212-50G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1212-50G>C ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1212-50G>T ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1972-399G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.2203-114C>T ( 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 )
SKIC2 p.Gln151Arg (p.Q151R) ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1212-50G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1212-50G>C ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1212-50G>T ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1212-29G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.1972-399G>A ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 )
SKIC2 c.2203-114C>T ( 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
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.13082533727481
- Year of publication
- NA
Drugs