Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs752615209
rs752615209
NOD2
1 1.000 0.200 16 50710956 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs755659290
rs755659290
MEFV
1 1.000 0.200 16 3249480 missense variant T/C snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs886040969
rs886040969
NOD2
1 1.000 0.200 16 50712357 missense variant G/A snv 0.700 0
dbSNP: rs5745908
rs5745908
NEIL1
1 1.000 0.200 15 75349341 splice donor variant T/C snv 7.2E-03 6.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs774164456
rs774164456
PSTPIP1
1 1.000 0.200 15 77032888 missense variant G/A;C snv 2.6E-05 0.700 0
dbSNP: rs696
rs696
NFKBIA
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs3825427
rs3825427
UBAC2-AS1
1 1.000 0.200 13 99196717 non coding transcript exon variant C/A snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs7999348
rs7999348
UBAC2
1 1.000 0.200 13 99280668 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs9316059
rs9316059
NRAD1 ; LOC107984576
1 1.000 0.200 13 43912653 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9513584
rs9513584
UBAC2
1 1.000 0.200 13 99224027 intron variant G/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs9517668
rs9517668
UBAC2
1 1.000 0.200 13 99271586 intron variant T/A snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs9517701
rs9517701
UBAC2
1 1.000 0.200 13 99377286 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs9517723
rs9517723
LOC107984558
2 0.925 0.200 13 99432425 non coding transcript exon variant T/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs9577873
rs9577873
GAS6 ; GAS6-AS1
1 1.000 0.200 13 113825282 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2617170
rs2617170
KLRC4 ; KLRC4-KLRK1
1 1.000 0.200 12 10408358 missense variant T/C snv 0.63 0.61 0.820 1.000 3 2013 2017
dbSNP: rs104895297
rs104895297
MVK
3 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2005 2005
dbSNP: rs886039866
rs886039866
TNFRSF1A
1 1.000 0.200 12 6333376 missense variant G/A snv 0.700 0
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.030 0.667 3 2000 2013
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 1.000 3 2000 2013
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.020 1.000 2 2011 2013
dbSNP: rs11230563
rs11230563
CD6 ; LOC105369326
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.010 1.000 1 2016 2016