GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL9A3 G17Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
COL9A3 PPG39Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
COL9A3 P94Sinsufficiently evaluated none, f=0.054unknown hu3215A7 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
COL9A3 R103Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
COL9A3 R103Wlikely pathogenic, f=0.048dominant

Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%).

(10 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_F02 from PGP sample 95788191
COL9A3 L137Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
COL9A3 R234Pinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
COL9A3 R252Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
COL9A3 G295Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
COL9A3 P296Linsufficiently evaluated not reviewed, f=0.045unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19649-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL9A3 A435Einsufficiently evaluated none, f=0.271unknown

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
COL9A3 I443Vinsufficiently evaluated not reviewed, f=0.011unknown var-GS19026-1100-36-ASM (hom)
COL9A3 P513Linsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
COL9A3 G551Rinsufficiently evaluated noneunknown
COL9A3 A576Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
COL9A3 D600Ginsufficiently evaluated not reviewedunknown
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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