GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCG5 R50Cuncertain protective, f=0.068undefined

This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.

(9 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19669-1100-36-ASM
ABCG5 E77Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCG5 A98Ginsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS00253-DNA_H01_200_37
ABCG5 R243Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ABCG5 K262Rinsufficiently evaluated not reviewed, f=0.020unknown var-GS19704-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
ABCG5 R389Hinsufficiently evaluated pathogenicunknown

(6 web hits)

ABCG5 R408Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCG5 N410Hinsufficiently evaluated not reviewed, f=0.005unknown var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
ABCG5 R419Hinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

ABCG5 R419Pinsufficiently evaluated pathogenicunknown

(6 web hits)

ABCG5 T517Sinsufficiently evaluated not reviewed, f=0.012unknown var-GS18508-1100-36-ASM
ABCG5 Q604Einsufficiently evaluated none, f=0.214unknown

(120 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
ABCG5 I609Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
ABCG5 M622Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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