GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CFB R8Qinsufficiently evaluated pathogenicunknown

(780 web hits)

CFB R8Winsufficiently evaluated pathogenicunknown

(666 web hits)

CFB L9Huncertain protective, f=0.047unknown

This variant typically occurs along with E318D, forming the H10 haplotype. This variant appears to be protective; it was associated with a significantly lower incidence of age-related macular degeneration in an American study (OR = 0.45).

(741 web hits)

var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19704-1100-36-ASM
CFB R32Qlikely protective, f=0.117dominant

This variant is associated with a significant protective effect — individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.

(92 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
CFB R32Winsufficiently evaluated none, f=0.156unknown

(13 web hits)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
CFB R74Hinsufficiently evaluated not reviewed, f=0.016unknown var-GS18942-1100-36-ASM (hom)
CFB S192Ginsufficiently evaluated not reviewedunknown
CFB F286Linsufficiently evaluated pathogenicunknown

(13 web hits)

CFB V295Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CFB K323Einsufficiently evaluated pathogenicunknown

(11 web hits)

CFB V488Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37 (hom)
CFB R534Qinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CFB R534Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CFB K565Einsufficiently evaluated not reviewed, f=0.023unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
CFB E566Ainsufficiently evaluated none, f=0.008unknown
CFB D651Einsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
CFB G754Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
CFB K1067Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
CFB E1068Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_H01_200_37
Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

Log in