GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NOD2 A105Tinsufficiently evaluated not reviewed, f=0.000unknown

(2 web hits)

NOD2 A140Tinsufficiently evaluated none, f=0.008unknown

(12 web hits)

hu3215A7 build 36 substitution variants
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
NOD2 D154Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
NOD2 R235Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
NOD2 P268Sinsufficiently evaluated none, f=0.197unknown

(182 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
NOD2 N289Sinsufficiently evaluated none, f=0.006unknown

(12 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_B04 from PGP sample 88590671
NOD2 R334Qinsufficiently evaluated pathogenicunknown

(119 web hits)

NOD2 R334Winsufficiently evaluated pathogenicunknown

(166 web hits)

NOD2 H352Rinsufficiently evaluated not reviewed, f=0.003unknown

(11 web hits)

NOD2 D382Einsufficiently evaluated pathogenicunknown

(19 web hits)

NOD2 E383Kinsufficiently evaluated pathogenicunknown

(67 web hits)

NOD2 S431Linsufficiently evaluated none, f=0.001unknown

(14 web hits)

NOD2 L469Finsufficiently evaluated pathogenicunknown

(42 web hits)

NOD2 H496Linsufficiently evaluated pathogenicunknown

(19 web hits)

NOD2 L663Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
NOD2 R702Wuncertain pathogenic, f=0.033other

NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn’s disease in European populations, but not in Korean or Japanese groups.

(1220 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20509-1100-36-ASM
NOD2 R708Hinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
NOD2 A725Ginsufficiently evaluated not reviewed, f=0.013unknown var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
NOD2 A755Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
NOD2 R790Qinsufficiently evaluated not reviewed, f=0.011unknown

(4 web hits)

NOD2 R790Winsufficiently evaluated pathogenicrecessive

This variant was seen as a compound heterozygote with p.Leu1007fs in a patient with severe Crohn’s disease.

(9 web hits)

NOD2 V793Minsufficiently evaluated none, f=0.001unknown

(15 web hits)

NOD2 G908Runcertain pathogenic, f=0.011undefined

This variant is associated with an increased susceptibility to Crohn’s disease and other inflammatory bowel diseases (IBD). Assuming an overall prevalence of 0.5% for IBD, this variant implies an increased attributable risk of 2% (5x increased risk, for an overall risk of 2.5% of IBD for people with this variant).

(1160 web hits)

NOD2 V955Iinsufficiently evaluated none, f=0.068unknown

(22 web hits)

hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19649-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
NOD2 A1006Pinsufficiently evaluated pathogenicother

GWAS associating with Crohn’s disease

NOD2 L1007Shiftinsufficiently evaluated not reviewed, f=0.008unknown

Three Nod2 variants, G908R, R702W, and a frameshift deletion mutation at L1007 (L1007fsinsC), have been linked to CD development. Although the precise mechanisms by which Nod2 promotes disease remain unclear, CD-associated human Nod2 variants exhibit reduced capacity to activate NF-κB following MDP stimulation, suggesting that the loss of Nod2 activation promotes CD.

var-GS19700-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
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Total results: 26

Gene search

"GENE" or "GENE A123C":

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