Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2019 2019
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2009 2009
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
0.683 0.320 9 22125348 intron variant A/C snv 0.44
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2006 2006
dbSNP: rs2066844
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2006 2006
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2006 2006
dbSNP: rs30461
rs30461
IFNL1
0.827 0.120 19 39298475 missense variant A/G snv 0.13 0.25
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2015 2015
dbSNP: rs312016
rs312016
LRP5
1.000 0.040 11 68314935 intron variant C/T snv 0.28
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2013 2013
dbSNP: rs419598
rs419598
IL1RN
0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2017 2017
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2015 2015
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2014 2014
dbSNP: rs652438
rs652438
MMP12
0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 < 0.001 1 2007 2007
dbSNP: rs682429
rs682429
LRP5
1.000 0.040 11 68311851 upstream gene variant A/G snv 0.28
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2015 2015
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2009 2009
dbSNP: rs953038635
rs953038635
SOD2
0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2015 2015