Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
ARMS2 p.Ala69Ser (p.A69S)
(
ENST00000528446.1 )
rs3793917 ( ENST00000648167.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
C3 p.Pro314Leu (p.P314L) ( ENST00000245907.11 )
C3 p.Arg102Gly (p.R102G) ( ENST00000245907.11, ENST00000695693.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696027.1, ENST00000695981.1, ENST00000359637.3, ENST00000695984.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695979.1 )
ENSG00000289697 c.791-2362T>C, CFH c.791-2362T>C ( ENST00000696027.1, ENST00000695978.1, ENST00000695987.1, ENST00000630130.2, ENST00000696029.1, ENST00000696023.1, ENST00000696028.1, ENST00000695968.1, ENST00000696030.1, ENST00000695979.1, ENST00000695971.1, ENST00000695974.1, ENST00000695969.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000695984.1, ENST00000359637.3, ENST00000695981.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000695981.1, ENST00000695984.1, ENST00000359637.3, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695979.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695987.1, ENST00000695978.1, ENST00000696029.1, ENST00000696023.1, ENST00000630130.2, ENST00000696027.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695984.1, ENST00000695981.1, ENST00000696027.1, ENST00000696029.1, ENST00000696028.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000695976.1, ENST00000695970.1, ENST00000367429.9, ENST00000695974.1, ENST00000695969.1, ENST00000695971.1, ENST00000695981.1, ENST00000695984.1, ENST00000696029.1, ENST00000696027.1, ENST00000696028.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000696028.1, ENST00000696029.1, ENST00000696027.1, ENST00000695981.1, ENST00000695984.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1 )
ENSG00000289697 c.1697-1781C>A, CFH c.1697-1781C>A ( ENST00000696029.1, ENST00000696027.1, ENST00000696028.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000695971.1, ENST00000695974.1, ENST00000695969.1, ENST00000695981.1, ENST00000695984.1 )
rs16840639
CFHR4 c.998-270G>C ( ENST00000251424.8, ENST00000608469.6, ENST00000367416.6 )
rs6667243
CFHR5 c.*802T>G ( ENST00000256785.5 )
F13B p.Arg115His (p.R115H) ( ENST00000367412.2 )
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 )
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg534Leu (p.R534L), CFB p.Arg32Leu (p.R32L) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
rs3793917 ( ENST00000648167.1 )
HTRA1 c.-625G>A ( ENST00000648167.1 )
C3 p.Pro314Leu (p.P314L) ( ENST00000245907.11 )
C3 p.Arg102Gly (p.R102G) ( ENST00000245907.11, ENST00000695693.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000289697 c.791-2362T>C, CFH c.791-2362T>C ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.1697-1781C>A, CFH c.1697-1781C>A ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
rs16840639
CFHR4 c.998-270G>C ( ENST00000251424.8, ENST00000367416.6, ENST00000608469.6 )
rs6667243
CFHR5 c.*802T>G ( ENST00000256785.5 )
F13B p.Arg115His (p.R115H) ( ENST00000367412.2 )
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 )
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg534Leu (p.R534L), CFB p.Arg32Leu (p.R32L) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (rs800292, rs3766404, rs1061170, rs2274700 and rs393955), HTRA1 (rs11200638), CFHR1-5 (rs10922153, rs16840639, rs6667243, and rs1853883), LOC387715/ARMS2 (rs3793917 and rs10490924), C3 (rs2230199 and rs1047286), C2 (rs547154), CFB (rs641153) and F13B (rs6003) were examined.
- Pubmed
- 23582991
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.319044594910295
- Year of publication
- 2013
Drugs